#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
C1orf159	54991	broad.mit.edu	37	1	1019763	1019763	+	Splice_Site	SNP	C	C	T			TCGA-CQ-7065-01A-11D-2078-08	TCGA-CQ-7065-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	64c422bb-a531-4636-8e68-bdaf212df6dc	d1cb757d-641c-488c-a845-ee4a1075a662	g.chr1:1019763C>T	ENST00000379339.1	-	11	790	c.580G>A	c.(580-582)Gct>Act	p.A194T	C1orf159_ENST00000379319.1_Splice_Site_p.A158T|C1orf159_ENST00000421241.2_Splice_Site_p.A158T|C1orf159_ENST00000482816.1_5'UTR|C1orf159_ENST00000294576.5_Splice_Site_p.A158T|C1orf159_ENST00000448924.1_Splice_Site_p.A194T|C1orf159_ENST00000379320.1_Splice_Site_p.A158T			Q96HA4	CA159_HUMAN	chromosome 1 open reading frame 159	194						integral component of membrane (GO:0016021)						all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.96e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.77e-22)|Colorectal(212;6.51e-05)|COAD - Colon adenocarcinoma(227;0.000214)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|Kidney(185;0.00254)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)		ATCATTGCAGCCTTGAAAAGG	0.622																																						uc001act.2		NA																	0					0						c.(580-582)GCT>ACT		hypothetical protein LOC54991							30.0	31.0	31.0					1																	1019763		2199	4298	6497	SO:0001630	splice_region_variant	54991					integral to membrane		g.chr1:1019763C>T	AK128434	CCDS7.2	1p36.33	2008-02-05			ENSG00000131591	ENSG00000131591			26062	protein-coding gene	gene with protein product						12975309	Standard	NM_017891		Approved	FLJ20584	uc001acu.2	Q96HA4	OTTHUMG00000000745	ENST00000379339.1:c.580-1G>A	1.37:g.1019763C>T						C1orf159_uc001acu.2_Missense_Mutation_p.A158T|C1orf159_uc001acr.2_RNA|C1orf159_uc001acs.2_RNA|C1orf159_uc010nyd.1_RNA|C1orf159_uc001acm.2_Intron|C1orf159_uc009vju.1_Missense_Mutation_p.A136T|C1orf159_uc001acn.2_Missense_Mutation_p.A158T|C1orf159_uc001acp.2_Missense_Mutation_p.A158T	p.A194T	NM_017891	NP_060361	Q96HA4	CA159_HUMAN		Epithelial(90;2.96e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.77e-22)|Colorectal(212;6.51e-05)|COAD - Colon adenocarcinoma(227;0.000214)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|Kidney(185;0.00254)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)	11	1066	-	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	194					B3KQ46|Q5T2W6|Q6UX67|Q6ZR77|Q9NWV0	Missense_Mutation	SNP	ENST00000379339.1	37	c.580G>A		.	.	.	.	.	.	.	.	.	.	C	15.78	2.934522	0.52866	.	.	ENSG00000131591	ENST00000379339;ENST00000448924;ENST00000294576;ENST00000421241;ENST00000379320;ENST00000379319;ENST00000434641;ENST00000457999	.	.	.	3.66	3.66	0.41972	.	0.000000	0.85682	D	0.000000	T	0.70360	0.3215	M	0.68593	2.085	0.80722	D	1	D;D;D;D	0.89917	0.982;1.0;1.0;1.0	P;D;D;D	0.83275	0.78;0.996;0.984;0.996	T	0.72649	-0.4229	9	0.72032	D	0.01	-24.8515	9.3195	0.37955	0.0:0.7794:0.2205:0.0	.	158;194;158;158	Q5T2W7;Q96HA4;Q96HA4-4;Q5T2W9	.;CA159_HUMAN;.;.	T	194;194;158;158;158;158;158;169	.	ENSP00000294576:A158T	A	-	1	0	C1orf159	1009626	0.190000	0.23276	0.982000	0.44146	0.931000	0.56810	1.653000	0.37323	2.029000	0.59856	0.561000	0.74099	GCT		0.622	C1orf159-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000001851.2	NM_017891	Missense_Mutation	7	16	0	0	0	0	7	16				
SLC25A22	79751	broad.mit.edu	37	11	791950	791950	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-7065-01A-11D-2078-08	TCGA-CQ-7065-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	64c422bb-a531-4636-8e68-bdaf212df6dc	d1cb757d-641c-488c-a845-ee4a1075a662	g.chr11:791950A>G	ENST00000320230.5	-	10	1418	c.937T>C	c.(937-939)Tcc>Ccc	p.S313P	CEND1_ENST00000524587.1_5'Flank|CEND1_ENST00000330106.4_5'Flank|SLC25A22_ENST00000531214.1_Missense_Mutation_p.S313P	NM_001191061.1|NM_024698.5	NP_001177990.1|NP_078974.1	Q9H936	GHC1_HUMAN	solute carrier family 25 (mitochondrial carrier: glutamate), member 22	313					L-glutamate transport (GO:0015813)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)			endometrium(1)|kidney(1)|lung(2)|urinary_tract(1)	5		all_cancers(49;4.75e-06)|all_epithelial(84;0.00204)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;6.27e-26)|Epithelial(43;4.84e-25)|OV - Ovarian serous cystadenocarcinoma(40;2.72e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCCAGCAGGGACTCCGCGATG	0.716																																					Colon(93;848 1468 3270 23355 49636)	uc001lri.2		NA																	0					0						c.(937-939)TCC>CCC		mitochondrial glutamate carrier 1	L-Glutamic Acid(DB00142)						14.0	13.0	14.0					11																	791950		2181	4272	6453	SO:0001583	missense	79751					integral to membrane|mitochondrial inner membrane|nucleus	L-glutamate transmembrane transporter activity|protein binding|symporter activity	g.chr11:791950A>G	AJ428202	CCDS7715.1	11p15.5	2013-05-22			ENSG00000177542	ENSG00000177542		"""Solute carriers"""	19954	protein-coding gene	gene with protein product		609302				11897791	Standard	NM_024698		Approved	GC1, FLJ13044, NET44, EIEE3	uc001lrj.3	Q9H936	OTTHUMG00000133310	ENST00000320230.5:c.937T>C	11.37:g.791950A>G	ENSP00000322020:p.Ser313Pro					CEND1_uc001lrh.1_5'Flank|SLC25A22_uc009yci.2_Missense_Mutation_p.S313P|SLC25A22_uc001lrj.2_Missense_Mutation_p.S313P	p.S313P	NM_024698	NP_078974	Q9H936	GHC1_HUMAN		all cancers(45;6.27e-26)|Epithelial(43;4.84e-25)|OV - Ovarian serous cystadenocarcinoma(40;2.72e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	10	1279	-		all_cancers(49;4.75e-06)|all_epithelial(84;0.00204)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	313					A8K366|C9J1H6|E9PJD3|E9PKB2|E9PL68|E9PN26|E9PNQ3|E9PP01|E9PR97|Q8TBU8	Missense_Mutation	SNP	ENST00000320230.5	37	c.937T>C	CCDS7715.1	.	.	.	.	.	.	.	.	.	.	A	12.30	1.895840	0.33442	.	.	ENSG00000177542	ENST00000320230;ENST00000531214	T;T	0.79653	-1.29;-1.29	3.87	-0.299	0.12808	.	0.311307	0.29113	N	0.013106	T	0.61502	0.2352	N	0.14661	0.345	0.23936	N	0.996415	B	0.28208	0.203	B	0.33339	0.162	T	0.51872	-0.8650	10	0.36615	T	0.2	-31.7147	5.642	0.17569	0.544:0.1264:0.0:0.3295	.	313	Q9H936	GHC1_HUMAN	P	313	ENSP00000322020:S313P;ENSP00000437236:S313P	ENSP00000322020:S313P	S	-	1	0	SLC25A22	781950	1.000000	0.71417	0.994000	0.49952	0.697000	0.40408	2.527000	0.45615	0.161000	0.19458	0.533000	0.62120	TCC		0.716	SLC25A22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257107.2			12	15	0	0	0	0	12	15				
KCNJ1	3758	broad.mit.edu	37	11	128710112	128710112	+	Silent	SNP	G	G	A			TCGA-CQ-7065-01A-11D-2078-08	TCGA-CQ-7065-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	64c422bb-a531-4636-8e68-bdaf212df6dc	d1cb757d-641c-488c-a845-ee4a1075a662	g.chr11:128710112G>A	ENST00000392664.2	-	2	200	c.84C>T	c.(82-84)gtC>gtT	p.V28V	KCNJ1_ENST00000440599.2_Silent_p.V9V|KCNJ1_ENST00000324036.3_Silent_p.V9V|KCNJ1_ENST00000392665.2_Silent_p.V9V|KCNJ1_ENST00000392666.1_Silent_p.V9V	NM_000220.4	NP_000211.1	P48048	KCNJ1_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 1	28					cardiovascular system development (GO:0072358)|excretion (GO:0007588)|kidney development (GO:0001822)|post-embryonic development (GO:0009791)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of G-protein activated inward rectifier potassium channel activity (GO:1900128)|renal sodium ion absorption (GO:0070294)|synaptic transmission (GO:0007268)|tissue homeostasis (GO:0001894)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|inward rectifier potassium channel activity (GO:0005242)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			breast(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)	23	all_hematologic(175;0.0641)	all_lung(97;4.89e-06)|Lung NSC(97;9.34e-06)|Breast(109;0.00123)|all_hematologic(192;0.00793)|Renal(330;0.0112)|all_neural(223;0.0189)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;4.05e-06)|LUSC - Lung squamous cell carcinoma(976;0.008)|Lung(977;0.00942)	Bethanidine(DB00217)|Glimepiride(DB00222)|Glyburide(DB01016)|Glycodiazine(DB01382)|Minoxidil(DB00350)|Tolazamide(DB00839)|Tolbutamide(DB01124)|Yohimbine(DB01392)	AGCGAGTGACGACCCATTTCC	0.408																																						uc001qeo.1		NA																	0				ovary(3)|breast(1)	4						c.(82-84)GTC>GTT		potassium inwardly-rectifying channel J1 isoform	Acetohexamide(DB00414)|Chlorpropamide(DB00672)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glycodiazine(DB01382)|Minoxidil(DB00350)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolazamide(DB00839)|Tolbutamide(DB01124)						114.0	108.0	110.0					11																	128710112		2201	4297	6498	SO:0001819	synonymous_variant	3758				excretion	voltage-gated potassium channel complex	ATP binding|inward rectifier potassium channel activity	g.chr11:128710112G>A	BC063109	CCDS8476.1, CCDS8477.1	11q24	2011-07-05			ENSG00000151704	ENSG00000151704		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6255	protein-coding gene	gene with protein product		600359				7680431, 8190102, 16382105	Standard	NM_153765		Approved	Kir1.1, ROMK1	uc001qeo.2	P48048	OTTHUMG00000048247	ENST00000392664.2:c.84C>T	11.37:g.128710112G>A						KCNJ1_uc001qep.1_Silent_p.V9V|KCNJ1_uc001qeq.1_Silent_p.V9V|KCNJ1_uc001qer.1_Silent_p.V9V|KCNJ1_uc001qes.1_Silent_p.V9V	p.V28V	NM_000220	NP_000211	P48048	IRK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;4.05e-06)|LUSC - Lung squamous cell carcinoma(976;0.008)|Lung(977;0.00942)	2	135	-	all_hematologic(175;0.0641)	all_lung(97;4.89e-06)|Lung NSC(97;9.34e-06)|Breast(109;0.00123)|all_hematologic(192;0.00793)|Renal(330;0.0112)|all_neural(223;0.0189)|Medulloblastoma(222;0.0425)	28			Cytoplasmic (By similarity).		B2RMR4|Q6LD67	Silent	SNP	ENST00000392664.2	37	c.84C>T	CCDS8476.1																																																																																				0.408	KCNJ1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386233.1	NM_000220		36	122	0	0	0	0	36	122				
ITGA7	3679	broad.mit.edu	37	12	56079057	56079057	+	Missense_Mutation	SNP	G	G	A	rs367574217		TCGA-CQ-7065-01A-11D-2078-08	TCGA-CQ-7065-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	64c422bb-a531-4636-8e68-bdaf212df6dc	d1cb757d-641c-488c-a845-ee4a1075a662	g.chr12:56079057G>A	ENST00000555728.1	-	26	3359	c.3331C>T	c.(3331-3333)Cgg>Tgg	p.R1111W	ITGA7_ENST00000257879.6_Missense_Mutation_p.R1067W|ITGA7_ENST00000553804.1_Missense_Mutation_p.R1071W|ITGA7_ENST00000394229.2_Silent_p.N1104N|ITGA7_ENST00000394230.2_Silent_p.N1108N|ITGA7_ENST00000347027.6_Missense_Mutation_p.R1061W|ITGA7_ENST00000257880.7_Silent_p.N1148N|ITGA7_ENST00000452168.2_Missense_Mutation_p.R974W			Q13683	ITA7_HUMAN	integrin, alpha 7	1111					blood vessel morphogenesis (GO:0048514)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|regulation of cell shape (GO:0008360)|skeletal muscle tissue development (GO:0007519)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integrin alpha7-beta1 complex (GO:0034677)|muscle tendon junction (GO:0005927)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						TGCTTCGCCCGTTTGAAGAAT	0.607																																						uc001shh.2		NA																	0				ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5						c.(3211-3213)CGG>TGG		integrin alpha 7 isoform 1 precursor		G	TRP/ARG,TRP/ARG,TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	63.0	57.0	59.0		3211,2920,3199	4.2	1.0	12		59	0,8600		0,0,4300	no	missense,missense,missense	ITGA7	NM_001144996.1,NM_001144997.1,NM_002206.2	101,101,101	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging	1071/1142,974/1045,1067/1138	56079057	1,13005	2203	4300	6503	SO:0001583	missense	3679				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity	g.chr12:56079057G>A		CCDS8888.1, CCDS44914.1, CCDS55832.1	12q13	2014-09-17				ENSG00000135424		"""Integrins"""	6143	protein-coding gene	gene with protein product		600536				7607681	Standard	NM_002206		Approved		uc001shh.3	Q13683		ENST00000555728.1:c.3331C>T	12.37:g.56079057G>A	ENSP00000452387:p.Arg1111Trp					ITGA7_uc001shg.2_Missense_Mutation_p.R1067W|ITGA7_uc010sps.1_Missense_Mutation_p.R974W|ITGA7_uc001shf.2_Silent_p.N82N|ITGA7_uc009znw.2_Missense_Mutation_p.R314W|ITGA7_uc009znx.2_Missense_Mutation_p.R948W	p.R1071W	NM_001144996	NP_001138468	Q13683	ITA7_HUMAN			25	3431	-			1111			GFFKR motif.|Cytoplasmic (Potential).		B4E3U0|C9JMD3|C9JMZ6|O43197|Q86W93|Q9NY89|Q9UET0|Q9UEV2	Missense_Mutation	SNP	ENST00000555728.1	37	c.3211C>T		.	.	.	.	.	.	.	.	.	.	G	22.2	4.254311	0.80135	2.27E-4	0.0	ENSG00000135424	ENST00000553804;ENST00000257879;ENST00000347027;ENST00000452168;ENST00000555728	T;T;T;T;T	0.25749	1.78;1.78;1.78;1.78;1.78	5.12	4.19	0.49359	Integrin alpha chain, C-terminal cytoplasmic region, conserved site (1);	0.079095	0.50627	D	0.000101	T	0.56352	0.1979	M	0.91090	3.175	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.972;0.992;0.984	T	0.64859	-0.6308	10	0.87932	D	0	.	10.8847	0.46960	0.0:0.0:0.6738:0.3262	.	974;1111;1071;1130	Q13683-13;Q13683;Q13683-3;Q4LE35	.;ITA7_HUMAN;.;.	W	1071;1067;1061;974;1111	ENSP00000452120:R1071W;ENSP00000257879:R1067W;ENSP00000343009:R1061W;ENSP00000393844:R974W;ENSP00000452387:R1111W	ENSP00000257879:R1067W	R	-	1	2	ITGA7	54365324	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.697000	0.68295	2.381000	0.81170	0.555000	0.69702	CGG		0.607	ITGA7-014	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000410138.1	NM_002206		17	26	0	0	0	0	17	26				
ARHGAP9	64333	broad.mit.edu	37	12	57871047	57871047	+	Silent	SNP	A	A	T			TCGA-CQ-7065-01A-11D-2078-08	TCGA-CQ-7065-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	64c422bb-a531-4636-8e68-bdaf212df6dc	d1cb757d-641c-488c-a845-ee4a1075a662	g.chr12:57871047A>T	ENST00000356411.2	-	5	900	c.762T>A	c.(760-762)ccT>ccA	p.P254P	ARHGAP9_ENST00000550454.1_5'UTR|ARHGAP9_ENST00000550288.1_Silent_p.P333P|ARHGAP9_ENST00000424809.2_Silent_p.P254P|ARHGAP9_ENST00000430041.2_Silent_p.P70P|ARHGAP9_ENST00000393791.3_Silent_p.P254P|ARHGAP9_ENST00000393797.2_Silent_p.P325P			Q9BRR9	RHG09_HUMAN	Rho GTPase activating protein 9	254					positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)			endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30			GBM - Glioblastoma multiforme(3;3.37e-34)			CCATGGAGCCAGGGTTCTGGG	0.527																																						uc001sod.2		NA																	0				lung(1)	1						c.(973-975)CCT>CCA		Rho GTPase activating protein 9 isoform 1							110.0	93.0	99.0					12																	57871047		2203	4300	6503	SO:0001819	synonymous_variant	64333				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	g.chr12:57871047A>T	AB051853	CCDS8941.2, CCDS44928.1, CCDS44929.1	12q13.3	2013-01-10			ENSG00000123329	ENSG00000123329		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	14130	protein-coding gene	gene with protein product		610576				11396949	Standard	NM_032496		Approved	MGC1295, 10C	uc001soc.3	Q9BRR9	OTTHUMG00000150147	ENST00000356411.2:c.762T>A	12.37:g.57871047A>T						ARHGAP9_uc001sny.2_5'Flank|ARHGAP9_uc001snz.2_Silent_p.P70P|ARHGAP9_uc001soa.2_5'UTR|ARHGAP9_uc001sob.2_Silent_p.P254P|ARHGAP9_uc001soc.2_Silent_p.P254P|ARHGAP9_uc001soe.1_Silent_p.P333P|ARHGAP9_uc010sro.1_Silent_p.P254P	p.P325P	NM_032496	NP_115885	Q9BRR9	RHG09_HUMAN	GBM - Glioblastoma multiforme(3;3.37e-34)		8	1168	-			254					B4DVI3|E9PDX9|Q8NAF3|Q8TCJ3|Q8WYR0|Q96EZ2|Q96S74	Silent	SNP	ENST00000356411.2	37	c.975T>A																																																																																					0.527	ARHGAP9-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_032496		14	36	0	0	0	0	14	36				
HCAR3	8843	broad.mit.edu	37	12	123200127	123200127	+	Silent	SNP	G	G	A			TCGA-CQ-7065-01A-11D-2078-08	TCGA-CQ-7065-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	64c422bb-a531-4636-8e68-bdaf212df6dc	d1cb757d-641c-488c-a845-ee4a1075a662	g.chr12:123200127G>A	ENST00000528880.2	-	1	1312	c.1158C>T	c.(1156-1158)atC>atT	p.I386I	HCAR1_ENST00000356987.2_Intron|RP11-324E6.6_ENST00000543611.1_lincRNA	NM_006018.2	NP_006009.2	P49019	HCAR3_HUMAN	hydroxycarboxylic acid receptor 3	386					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	9					Niacin(DB00627)	GACATTACTCGATGCAACAGC	0.488																																						uc001ucy.3		NA																	0				ovary(1)|skin(1)	2						c.(1156-1158)ATC>ATT		G protein-coupled receptor 109B	Mepenzolate(DB04843)|Niacin(DB00627)						106.0	113.0	111.0					12																	123200127		2203	4299	6502	SO:0001819	synonymous_variant	8843					integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr12:123200127G>A	D10923	CCDS53842.1	12q24.31	2012-08-08	2011-05-30	2011-05-30		ENSG00000255398		"""GPCR / Class A : Hydroxy-carboxylic acid receptors"""	16824	protein-coding gene	gene with protein product		606039	"""G protein-coupled receptor 109B"""	GPR109B		7505609, 9205127, 18983141, 21454438	Standard	NM_006018		Approved	HCA3, HM74	uc001ucy.4	P49019		ENST00000528880.2:c.1158C>T	12.37:g.123200127G>A						GPR81_uc001ucw.1_Intron	p.I386I	NM_006018	NP_006009	P49019	HCAR3_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.12e-05)|Epithelial(86;3.19e-05)|BRCA - Breast invasive adenocarcinoma(302;0.196)	1	1313	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		386			Cytoplasmic (Potential).		A8K4G5|B2R830|E9PI97|Q8NGE4	Silent	SNP	ENST00000528880.2	37	c.1158C>T	CCDS53842.1																																																																																				0.488	HCAR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387549.2	NM_006018		37	73	0	0	0	0	37	73				
FRY	10129	broad.mit.edu	37	13	32783208	32783208	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-7065-01A-11D-2078-08	TCGA-CQ-7065-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	64c422bb-a531-4636-8e68-bdaf212df6dc	d1cb757d-641c-488c-a845-ee4a1075a662	g.chr13:32783208T>C	ENST00000380250.3	+	32	4733	c.4237T>C	c.(4237-4239)Tca>Cca	p.S1413P		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	1413						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		AGAAGCCACGTCACTGGTCCT	0.542																																						uc001utx.2		NA																	0				ovary(5)|large_intestine(1)|skin(1)	7						c.(4237-4239)TCA>CCA		furry homolog							62.0	65.0	64.0					13																	32783208		1970	4150	6120	SO:0001583	missense	10129				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane		g.chr13:32783208T>C	AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"""chromosome 13 open reading frame 14"""	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.4237T>C	13.37:g.32783208T>C	ENSP00000369600:p.Ser1413Pro					FRY_uc010tdw.1_RNA	p.S1413P	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)	32	4733	+		Lung SC(185;0.0271)	1413					Q9Y3N6	Missense_Mutation	SNP	ENST00000380250.3	37	c.4237T>C	CCDS41875.1	.	.	.	.	.	.	.	.	.	.	T	18.51	3.639777	0.67244	.	.	ENSG00000073910	ENST00000380250;ENST00000380257	T	0.24723	1.84	5.21	4.0	0.46444	.	0.202494	0.44285	D	0.000469	T	0.35248	0.0925	L	0.51422	1.61	0.80722	D	1	P	0.45212	0.853	P	0.53102	0.718	T	0.02320	-1.1177	10	0.32370	T	0.25	.	12.2243	0.54451	0.0:0.0:0.1426:0.8574	.	1413	Q5TBA9	FRY_HUMAN	P	1413;250	ENSP00000369600:S1413P	ENSP00000369600:S1413P	S	+	1	0	FRY	31681208	0.994000	0.37717	0.101000	0.21167	0.986000	0.74619	2.609000	0.46317	0.801000	0.34066	0.397000	0.26171	TCA		0.542	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1	NM_023037		29	23	0	0	0	0	29	23				
PCDH17	27253	broad.mit.edu	37	13	58206802	58206802	+	Missense_Mutation	SNP	A	A	C			TCGA-CQ-7065-01A-11D-2078-08	TCGA-CQ-7065-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	64c422bb-a531-4636-8e68-bdaf212df6dc	d1cb757d-641c-488c-a845-ee4a1075a662	g.chr13:58206802A>C	ENST00000377918.3	+	1	148	c.122A>C	c.(121-123)gAt>gCt	p.D41A		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	41	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		ATCGGCAGGGATGCTCGACTG	0.662																																					Melanoma(72;952 1291 1619 12849 33676)	uc001vhq.1		NA																	0				ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	7						c.(121-123)GAT>GCT		protocadherin 17 precursor							32.0	33.0	33.0					13																	58206802		2203	4300	6503	SO:0001583	missense	27253				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr13:58206802A>C	AF029343	CCDS31986.1	13q21.1	2010-01-26			ENSG00000118946	ENSG00000118946		"""Cadherins / Protocadherins : Non-clustered"""	14267	protein-coding gene	gene with protein product		611760				10835267	Standard	NM_001040429		Approved	PCDH68, PCH68	uc001vhq.1	O14917	OTTHUMG00000016992	ENST00000377918.3:c.122A>C	13.37:g.58206802A>C	ENSP00000367151:p.Asp41Ala					PCDH17_uc010aec.1_Missense_Mutation_p.D41A	p.D41A	NM_001040429	NP_001035519	O14917	PCD17_HUMAN		GBM - Glioblastoma multiforme(99;1.06e-05)	1	1014	+		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)	41			Extracellular (Potential).|Cadherin 1.		A8K1R5|Q5VVW9|Q5VVX0	Missense_Mutation	SNP	ENST00000377918.3	37	c.122A>C	CCDS31986.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.056076	0.76074	.	.	ENSG00000118946	ENST00000377918	T	0.34072	1.38	5.55	5.55	0.83447	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.71660	0.3366	H	0.95079	3.62	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.81174	-0.1053	9	.	.	.	.	15.8615	0.79026	1.0:0.0:0.0:0.0	.	41;41	O14917-2;O14917	.;PCD17_HUMAN	A	41	ENSP00000367151:D41A	.	D	+	2	0	PCDH17	57104803	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	8.733000	0.91539	2.333000	0.79357	0.533000	0.62120	GAT		0.662	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045139.1	NM_001040429		3	25	0	0	0	0	3	25				
OR4Q3	441669	broad.mit.edu	37	14	20216210	20216210	+	Silent	SNP	T	T	C			TCGA-CQ-7065-01A-11D-2078-08	TCGA-CQ-7065-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	64c422bb-a531-4636-8e68-bdaf212df6dc	d1cb757d-641c-488c-a845-ee4a1075a662	g.chr14:20216210T>C	ENST00000331723.1	+	1	624	c.624T>C	c.(622-624)tcT>tcC	p.S208S		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	208						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GTCTGCTGTCTCTTGTCTGCT	0.493																																						uc010tkt.1		NA																	0				breast(3)	3						c.(622-624)TCT>TCC		olfactory receptor, family 4, subfamily Q,							221.0	172.0	188.0					14																	20216210		2203	4300	6503	SO:0001819	synonymous_variant	441669				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20216210T>C	AF179768	CCDS32020.1	14p13	2012-08-09				ENSG00000182652		"""GPCR / Class A : Olfactory receptors"""	15426	protein-coding gene	gene with protein product				OR4Q4			Standard	NM_172194		Approved	C14orf13	uc010tkt.2	Q8NH05		ENST00000331723.1:c.624T>C	14.37:g.20216210T>C							p.S208S	NM_172194	NP_751944	Q8NH05	OR4Q3_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	624	+	all_cancers(95;0.00108)		208			Helical; Name=5; (Potential).		Q6IEX4	Silent	SNP	ENST00000331723.1	37	c.624T>C	CCDS32020.1																																																																																				0.493	OR4Q3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409818.2			18	39	0	0	0	0	18	39				
NEMF	9147	broad.mit.edu	37	14	50255970	50255970	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7065-01A-11D-2078-08	TCGA-CQ-7065-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	64c422bb-a531-4636-8e68-bdaf212df6dc	d1cb757d-641c-488c-a845-ee4a1075a662	g.chr14:50255970C>T	ENST00000298310.5	-	28	3238	c.2789G>A	c.(2788-2790)aGa>aAa	p.R930K	NEMF_ENST00000545773.1_Missense_Mutation_p.R888K|NEMF_ENST00000546046.1_Missense_Mutation_p.R909K|NEMF_ENST00000556925.1_5'UTR|NEMF_ENST00000382135.2_Missense_Mutation_p.R130K			O60524	NEMF_HUMAN	nuclear export mediator factor	930					nuclear export (GO:0051168)	nucleus (GO:0005634)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(13)|liver(1)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	36						CTGTCCACCTCTAGGTTTCTG	0.413																																						uc001wxc.2		NA																	0					0						c.(2788-2790)AGA>AAA		serologically defined colon cancer antigen 1							196.0	195.0	195.0					14																	50255970		2203	4300	6503	SO:0001583	missense	9147					cytoplasm|nucleus		g.chr14:50255970C>T	AF039687	CCDS9694.1	14q21.3	2012-11-19	2011-01-31	2011-01-31	ENSG00000165525	ENSG00000165525			10663	protein-coding gene	gene with protein product		608378	"""serologically defined colon cancer antigen 1"""	SDCCAG1		9610721, 10575219	Standard	XR_429334		Approved	NY-CO-1, FLJ10051	uc001wxc.3	O60524	OTTHUMG00000170857	ENST00000298310.5:c.2789G>A	14.37:g.50255970C>T	ENSP00000298310:p.Arg930Lys					SDCCAG1_uc010anj.1_Missense_Mutation_p.R930K|SDCCAG1_uc001wwz.2_Missense_Mutation_p.R130K|SDCCAG1_uc001wxa.2_Missense_Mutation_p.R210K|SDCCAG1_uc010tqi.1_Missense_Mutation_p.R909K|SDCCAG1_uc001wxe.2_Missense_Mutation_p.R888K	p.R930K	NM_004713	NP_004704	O60524	NEMF_HUMAN		OV - Ovarian serous cystadenocarcinoma(311;5.99e-34)	28	2857	-	all_epithelial(31;0.000822)|Breast(41;0.0117)	all_lung(585;1.02e-05)	930					A0JLQ3|B3KSK1|B4DDL3|B4DHA9|B4E3F3|Q32Q66|Q8WW70|Q9NWG1	Missense_Mutation	SNP	ENST00000298310.5	37	c.2789G>A	CCDS9694.1	.	.	.	.	.	.	.	.	.	.	C	0.422	-0.907660	0.02434	.	.	ENSG00000165525	ENST00000298310;ENST00000545773;ENST00000382135;ENST00000546046;ENST00000534912;ENST00000555970	T;T;T;T	0.39229	1.1;1.1;1.09;1.11	5.65	0.541	0.17168	.	0.225617	0.38326	N	0.001727	T	0.19087	0.0458	N	0.17474	0.49	0.26586	N	0.973285	B;B;B;B;B	0.12013	0.005;0.005;0.003;0.0;0.004	B;B;B;B;B	0.13407	0.009;0.004;0.003;0.0;0.004	T	0.30937	-0.9961	10	0.02654	T	1	-10.9976	8.4429	0.32826	0.0:0.3962:0.0:0.6038	.	909;905;888;930;130	O60524-3;O60524-5;O60524-4;O60524;O60524-2	.;.;.;NEMF_HUMAN;.	K	930;888;130;909;702;888	ENSP00000298310:R930K;ENSP00000438309:R888K;ENSP00000441016:R909K;ENSP00000452540:R888K	ENSP00000298310:R930K	R	-	2	0	NEMF	49325720	0.982000	0.34865	0.997000	0.53966	0.213000	0.24496	1.752000	0.38349	0.288000	0.22398	0.557000	0.71058	AGA		0.413	NEMF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410798.1	NM_004713		46	101	0	0	0	0	46	101				
PPP4C	5531	broad.mit.edu	37	16	30096327	30096327	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7065-01A-11D-2078-08	TCGA-CQ-7065-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	64c422bb-a531-4636-8e68-bdaf212df6dc	d1cb757d-641c-488c-a845-ee4a1075a662	g.chr16:30096327C>T	ENST00000279387.7	+	9	1036	c.868C>T	c.(868-870)Ccc>Tcc	p.P290S	PPP4C_ENST00000561610.1_Missense_Mutation_p.P290S	NM_002720.1	NP_002711.1	P60510	PP4C_HUMAN	protein phosphatase 4, catalytic subunit	290					dephosphorylation (GO:0016311)|NIK/NF-kappaB signaling (GO:0038061)|regulation of double-strand break repair via homologous recombination (GO:0010569)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein phosphatase 4 complex (GO:0030289)	metal ion binding (GO:0046872)|NF-kappaB-inducing kinase activity (GO:0004704)|protein serine/threonine phosphatase activity (GO:0004722)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|lung(2)|pancreas(1)|skin(1)|urinary_tract(1)	9						TGAGGCTGCTCCCCAAGAGAC	0.632																																						uc002dwe.2		NA																	0				skin(1)	1						c.(868-870)CCC>TCC		protein phosphatase 4, catalytic subunit							73.0	81.0	78.0					16																	30096327		2197	4300	6497	SO:0001583	missense	5531				microtubule cytoskeleton organization|regulation of double-strand break repair via homologous recombination	centrosome|nucleus	metal ion binding|NF-kappaB-inducing kinase activity|protein binding|protein serine/threonine phosphatase activity	g.chr16:30096327C>T		CCDS10669.1	16p11.2	2010-03-17	2010-03-05		ENSG00000149923	ENSG00000149923	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"""	9319	protein-coding gene	gene with protein product	"""protein phosphatase X, catalytic subunit"""	602035	"""protein phosphatase 4 (formerly X), catalytic subunit"""			9177794	Standard	NM_002720		Approved	PP4, PPX	uc002dwf.3	P60510	OTTHUMG00000132113	ENST00000279387.7:c.868C>T	16.37:g.30096327C>T	ENSP00000279387:p.Pro290Ser					uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|PPP4C_uc002dwf.2_Missense_Mutation_p.P290S|PPP4C_uc002dwg.2_RNA|PPP4C_uc002dwh.2_Missense_Mutation_p.P211S	p.P290S	NM_002720	NP_002711	P60510	PP4C_HUMAN			9	1012	+			290					P33172	Missense_Mutation	SNP	ENST00000279387.7	37	c.868C>T	CCDS10669.1	.	.	.	.	.	.	.	.	.	.	C	18.92	3.725956	0.69074	.	.	ENSG00000149923	ENST00000279387	T	0.06768	3.26	5.89	5.89	0.94794	Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (1);	0.000000	0.85682	D	0.000000	T	0.16171	0.0389	M	0.75447	2.3	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.01382	-1.1369	10	0.87932	D	0	-29.7797	19.0332	0.92967	0.0:1.0:0.0:0.0	.	290	P60510	PP4C_HUMAN	S	290	ENSP00000279387:P290S	ENSP00000279387:P290S	P	+	1	0	PPP4C	30003828	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.395000	0.66291	2.793000	0.96121	0.655000	0.94253	CCC		0.632	PPP4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255155.2	NM_002720		41	67	0	0	0	0	41	67				
TP53	7157	broad.mit.edu	37	17	7578394	7578394	+	Missense_Mutation	SNP	T	T	G			TCGA-CQ-7065-01A-11D-2078-08	TCGA-CQ-7065-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	64c422bb-a531-4636-8e68-bdaf212df6dc	d1cb757d-641c-488c-a845-ee4a1075a662	g.chr17:7578394T>G	ENST00000269305.4	-	5	725	c.536A>C	c.(535-537)cAt>cCt	p.H179P	TP53_ENST00000413465.2_Missense_Mutation_p.H179P|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000359597.4_Missense_Mutation_p.H179P|TP53_ENST00000420246.2_Missense_Mutation_p.H179P|TP53_ENST00000445888.2_Missense_Mutation_p.H179P|TP53_ENST00000455263.2_Missense_Mutation_p.H179P	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	179	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.H179R(108)|p.H179L(43)|p.P177_C182delPHHERC(8)|p.0?(8)|p.H47L(4)|p.H86L(4)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H179P(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.H86R(2)|p.H47R(2)|p.R174fs*1(2)|p.H179fs*68(1)|p.C176fs*65(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.E171fs*1(1)|p.R174fs*3(1)|p.E171fs*61(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GCAGCGCTCATGGTGGGGGCA	0.642		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		217	Substitution - Missense(166)|Deletion - In frame(24)|Deletion - Frameshift(18)|Whole gene deletion(8)|Complex - deletion inframe(1)	p.H179R(99)|p.H179Y(74)|p.H179L(31)|p.H179Q(17)|p.H179N(13)|p.H179D(10)|p.P177_C182delPHHERC(8)|p.0?(7)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H179P(3)|p.R175_E180delRCPHHE(3)|p.H179fs*68(2)|p.H179H(2)|p.P177fs*3(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.K164_P219del(1)|p.C176fs*65(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.H179del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.E171fs*1(1)|p.R174fs*3(1)|p.H178_H179>QY(1)|p.E171fs*61(1)	lung(35)|breast(32)|large_intestine(29)|upper_aerodigestive_tract(26)|oesophagus(21)|ovary(21)|central_nervous_system(16)|haematopoietic_and_lymphoid_tissue(8)|urinary_tract(6)|pancreas(6)|liver(5)|bone(4)|biliary_tract(3)|cervix(1)|stomach(1)|endometrium(1)|salivary_gland(1)|skin(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245						c.(535-537)CAT>CCT	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							47.0	47.0	47.0					17																	7578394		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578394T>G	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.536A>C	17.37:g.7578394T>G	ENSP00000269305:p.His179Pro	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.H179P|TP53_uc002gih.2_Missense_Mutation_p.H179P|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.H47P|TP53_uc010cng.1_Missense_Mutation_p.H47P|TP53_uc002gii.1_Missense_Mutation_p.H47P|TP53_uc010cnh.1_Missense_Mutation_p.H179P|TP53_uc010cni.1_Missense_Mutation_p.H179P|TP53_uc002gij.2_Missense_Mutation_p.H179P|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.H86P|TP53_uc002gio.2_Missense_Mutation_p.H47P|TP53_uc010vug.1_Missense_Mutation_p.H140P	p.H179P	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	730	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	179		H -> Q (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> D (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).	Zinc.	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.536A>C	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	25.5	4.645497	0.87859	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99910	-7.88;-7.88;-7.88;-7.88;-7.88;-7.88;-7.88;-7.88	5.47	5.47	0.80525	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.048592	0.85682	D	0.000000	D	0.99917	0.9961	M	0.92507	3.315	0.80722	D	1	B;D;D;D;B;D;D	0.89917	0.062;1.0;0.993;1.0;0.274;1.0;0.998	B;D;D;D;P;D;D	0.97110	0.191;0.999;0.979;1.0;0.655;0.998;0.987	D	0.95874	0.8893	10	0.87932	D	0	-15.4889	13.8032	0.63214	0.0:0.0:0.0:1.0	.	140;179;179;86;179;179;179	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	P	179;179;179;179;179;179;168;86;47;86;47	ENSP00000410739:H179P;ENSP00000352610:H179P;ENSP00000269305:H179P;ENSP00000398846:H179P;ENSP00000391127:H179P;ENSP00000391478:H179P;ENSP00000425104:H47P;ENSP00000423862:H86P	ENSP00000269305:H179P	H	-	2	0	TP53	7519119	1.000000	0.71417	0.945000	0.38365	0.856000	0.48823	6.263000	0.72521	2.208000	0.71279	0.460000	0.39030	CAT		0.642	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		17	37	0	0	0	0	17	37				
SLC47A1	55244	broad.mit.edu	37	17	19459314	19459314	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-7065-01A-11D-2078-08	TCGA-CQ-7065-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	64c422bb-a531-4636-8e68-bdaf212df6dc	d1cb757d-641c-488c-a845-ee4a1075a662	g.chr17:19459314T>C	ENST00000270570.4	+	10	946	c.860T>C	c.(859-861)cTc>cCc	p.L287P	SLC47A1_ENST00000575023.1_Intron|SLC47A1_ENST00000395585.1_Missense_Mutation_p.L287P|SLC47A1_ENST00000571335.1_Missense_Mutation_p.L92P|SLC47A1_ENST00000457293.1_Missense_Mutation_p.L287P|SNORA59B_ENST00000458926.1_RNA|SLC47A1_ENST00000436810.2_Missense_Mutation_p.L264P|SLC47A1_ENST00000542886.1_3'UTR	NM_018242.2	NP_060712.2	Q96FL8	S47A1_HUMAN	solute carrier family 47 (multidrug and toxin extrusion), member 1	287					organic cation transport (GO:0015695)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|membrane-bounded vesicle (GO:0031988)|plasma membrane (GO:0005886)	drug transmembrane transporter activity (GO:0015238)|monovalent cation:proton antiporter activity (GO:0005451)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(5)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345)				Aciclovir(DB00787)|Bromodiphenhydramine(DB01237)|Cephalexin(DB00567)|Cimetidine(DB00501)|Metformin(DB00331)|Sirolimus(DB00877)	CCAGGCATCCTCGGCATGGTG	0.592																																						uc002gvy.1		NA																	0					0						c.(859-861)CTC>CCC		solute carrier family 47, member 1							78.0	67.0	71.0					17																	19459314		2203	4300	6503	SO:0001583	missense	55244					integral to membrane|plasma membrane	drug:hydrogen antiporter activity	g.chr17:19459314T>C		CCDS11209.1	17p11.2	2013-07-17	2013-07-17		ENSG00000142494	ENSG00000142494		"""Solute carriers"""	25588	protein-coding gene	gene with protein product	"""multidrug and toxin extrusion 1"""	609832				16330770, 16996621, 16928787	Standard	NM_018242		Approved	FLJ10847, MATE1	uc002gvy.1	Q96FL8	OTTHUMG00000059466	ENST00000270570.4:c.860T>C	17.37:g.19459314T>C	ENSP00000270570:p.Leu287Pro					SLC47A1_uc010vyy.1_RNA|SLC47A1_uc002gvx.2_Missense_Mutation_p.L287P|SLC47A1_uc010vyz.1_Missense_Mutation_p.L264P|SLC47A1_uc010cqp.1_Intron|SLC47A1_uc010cqq.1_Missense_Mutation_p.L92P|SLC47A1_uc010vza.1_5'UTR|SLC47A1_uc010vzb.1_Missense_Mutation_p.L21P|SLC47A1_uc010vzc.1_5'UTR|SNORA59B_uc002gvz.1_5'Flank	p.L287P	NM_018242	NP_060712	Q96FL8	S47A1_HUMAN			10	946	+	all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345)		287			Extracellular (Potential).		Q53HF5|Q6PD77|Q86VL4|Q9NVA3	Missense_Mutation	SNP	ENST00000270570.4	37	c.860T>C	CCDS11209.1	.	.	.	.	.	.	.	.	.	.	T	24.3	4.516209	0.85495	.	.	ENSG00000142494	ENST00000436810;ENST00000270570;ENST00000457293;ENST00000395585;ENST00000455670	T;T;T;T	0.44482	0.92;0.92;0.92;0.92	5.54	5.54	0.83059	.	0.215328	0.47455	D	0.000227	T	0.78496	0.4292	H	0.98754	4.32	0.80722	D	1	D;D;D;D;D	0.76494	0.999;0.997;0.993;0.998;0.999	D;D;D;D;D	0.72625	0.976;0.968;0.976;0.971;0.978	D	0.87424	0.2384	10	0.87932	D	0	-6.4389	14.8707	0.70456	0.0:0.0:0.0:1.0	.	21;264;21;287;287	E7ENC3;E7EX57;B4DDH5;Q96FL8;Q96FL8-3	.;.;.;S47A1_HUMAN;.	P	264;287;287;287;21	ENSP00000407155:L264P;ENSP00000270570:L287P;ENSP00000415586:L287P;ENSP00000378951:L287P	ENSP00000270570:L287P	L	+	2	0	SLC47A1	19399906	1.000000	0.71417	0.950000	0.38849	0.966000	0.64601	7.360000	0.79487	2.104000	0.64026	0.533000	0.62120	CTC		0.592	SLC47A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132250.1	NM_018242		21	31	0	0	0	0	21	31				
MUC16	94025	broad.mit.edu	37	19	9085093	9085093	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CQ-7065-01A-11D-2078-08	TCGA-CQ-7065-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	64c422bb-a531-4636-8e68-bdaf212df6dc	d1cb757d-641c-488c-a845-ee4a1075a662	g.chr19:9085093G>T	ENST00000397910.4	-	1	6925	c.6722C>A	c.(6721-6723)tCa>tAa	p.S2241*		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2241	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGCCCCATCTGAAGGTGTGTC	0.468																																						uc002mkp.2		NA																	0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(6721-6723)TCA>TAA		mucin 16							107.0	103.0	104.0					19																	9085093		1964	4170	6134	SO:0001587	stop_gained	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9085093G>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.6722C>A	19.37:g.9085093G>T	ENSP00000381008:p.Ser2241*						p.S2241*	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			1	6926	-			2241			Ser-rich.|Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Nonsense_Mutation	SNP	ENST00000397910.4	37	c.6722C>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	46	12.718575	0.99690	.	.	ENSG00000181143	ENST00000397910	.	.	.	0.225	0.225	0.15325	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	.	.	.	.	.	.	.	X	2241	.	ENSP00000381008:S2241X	S	-	2	0	MUC16	8946093	0.044000	0.20184	0.040000	0.18447	0.042000	0.13812	0.364000	0.20325	0.300000	0.22699	0.305000	0.20034	TCA		0.468	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		13	24	1	0	0.000151284	0.000164223	13	24				
SLC8A1	6546	broad.mit.edu	37	2	40655955	40655955	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-7065-01A-11D-2078-08	TCGA-CQ-7065-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	64c422bb-a531-4636-8e68-bdaf212df6dc	d1cb757d-641c-488c-a845-ee4a1075a662	g.chr2:40655955T>C	ENST00000403092.1	-	2	1499	c.1466A>G	c.(1465-1467)gAa>gGa	p.E489G	SLC8A1_ENST00000542756.1_Missense_Mutation_p.E489G|SLC8A1_ENST00000402441.1_Missense_Mutation_p.E489G|SLC8A1_ENST00000542024.1_Missense_Mutation_p.E489G|SLC8A1_ENST00000405901.3_Missense_Mutation_p.E489G|SLC8A1_ENST00000405269.1_Missense_Mutation_p.E489G|SLC8A1_ENST00000406785.2_Missense_Mutation_p.E489G|SLC8A1_ENST00000408028.2_Missense_Mutation_p.E489G|SLC8A1_ENST00000332839.4_Missense_Mutation_p.E489G|SLC8A1_ENST00000406391.2_Missense_Mutation_p.E489G			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	489	Calx-beta 1.				blood coagulation (GO:0007596)|calcium ion export (GO:1901660)|calcium ion homeostasis (GO:0055074)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|cardiac muscle cell development (GO:0055013)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to caffeine (GO:0071313)|cellular response to reactive oxygen species (GO:0034614)|cellular sodium ion homeostasis (GO:0006883)|cytosolic calcium ion transport (GO:0060401)|embryonic heart tube development (GO:0035050)|embryonic placenta development (GO:0001892)|heart morphogenesis (GO:0003007)|ion transport (GO:0006811)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|post-embryonic development (GO:0009791)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|relaxation of smooth muscle (GO:0044557)|sodium ion export (GO:0071436)|sodium ion import (GO:0097369)|transmembrane transport (GO:0055085)|vascular smooth muscle contraction (GO:0014829)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|calcium:sodium antiporter activity (GO:0005432)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	AAGGAAATTTTCATCCTCCTC	0.408																																						uc002rrx.2		NA																	0				ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4						c.(1465-1467)GAA>GGA		solute carrier family 8 (sodium/calcium	Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)						76.0	74.0	74.0					2																	40655955		2203	4300	6503	SO:0001583	missense	6546				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding	g.chr2:40655955T>C		CCDS1806.1, CCDS46264.1, CCDS46265.1, CCDS59430.1	2p22.1	2013-07-15			ENSG00000183023	ENSG00000183023		"""Solute carriers"""	11068	protein-coding gene	gene with protein product	"""Na+/Ca++ exchanger"""	182305		NCX1		1559714	Standard	NM_021097		Approved		uc002rrx.3	P32418	OTTHUMG00000102183	ENST00000403092.1:c.1466A>G	2.37:g.40655955T>C	ENSP00000384763:p.Glu489Gly					SLC8A1_uc002rry.2_Missense_Mutation_p.E489G|SLC8A1_uc002rrz.2_Missense_Mutation_p.E489G|SLC8A1_uc002rsa.2_Missense_Mutation_p.E489G|SLC8A1_uc002rsd.3_Missense_Mutation_p.E489G|SLC8A1_uc002rsb.1_Missense_Mutation_p.E489G|SLC8A1_uc010fan.1_Missense_Mutation_p.E489G|SLC8A1_uc002rsc.1_Missense_Mutation_p.E489G	p.E489G	NM_021097	NP_066920	P32418	NAC1_HUMAN			1	1490	-			489			Calx-beta 1.|Cytoplasmic (Potential).		A8K6N1|D6W595|O95849|Q4QQG6|Q587I6|Q59GN4|Q9UBL8|Q9UD55|Q9UDN1|Q9UDN2|Q9UKX6	Missense_Mutation	SNP	ENST00000403092.1	37	c.1466A>G	CCDS1806.1	.	.	.	.	.	.	.	.	.	.	T	17.78	3.472750	0.63737	.	.	ENSG00000183023	ENST00000406785;ENST00000378715;ENST00000542756;ENST00000403092;ENST00000405901;ENST00000402441;ENST00000405269;ENST00000332839;ENST00000408028;ENST00000535962;ENST00000406391;ENST00000542024	T;T;T;T;T;T;T;T;T;T	0.59502	0.26;0.26;0.26;0.26;0.26;0.26;0.26;0.26;0.26;0.26	6.17	6.17	0.99709	Na-Ca exchanger/integrin-beta4 (2);	0.041490	0.85682	D	0.000000	D	0.84938	0.5583	H	0.98199	4.17	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.998;1.0;0.997;1.0	D;D;D;D;D	0.97110	1.0;0.986;1.0;0.94;1.0	D	0.90194	0.4252	10	0.87932	D	0	.	14.7743	0.69713	0.0:0.0:0.0:1.0	.	489;489;489;489;489	P32418-4;P32418-2;P32418-3;F6VPY9;P32418	.;.;.;.;NAC1_HUMAN	G	489	ENSP00000383886:E489G;ENSP00000440727:E489G;ENSP00000384763:E489G;ENSP00000385678:E489G;ENSP00000385188:E489G;ENSP00000385535:E489G;ENSP00000332931:E489G;ENSP00000384908:E489G;ENSP00000385811:E489G;ENSP00000443515:E489G	ENSP00000332931:E489G	E	-	2	0	SLC8A1	40509459	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	7.881000	0.87252	2.371000	0.80710	0.533000	0.62120	GAA		0.408	SLC8A1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326065.1	NM_021097		24	43	0	0	0	0	24	43				
ERCC3	2071	broad.mit.edu	37	2	128046236	128046236	+	Splice_Site	SNP	C	C	T	rs138897577		TCGA-CQ-7065-01A-11D-2078-08	TCGA-CQ-7065-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	64c422bb-a531-4636-8e68-bdaf212df6dc	d1cb757d-641c-488c-a845-ee4a1075a662	g.chr2:128046236C>T	ENST00000285398.2	-	7	1121	c.1027G>A	c.(1027-1029)Ggt>Agt	p.G343S	ERCC3_ENST00000493187.2_Splice_Site_p.G279S	NM_000122.1	NP_000113.1	P19447	ERCC3_HUMAN	excision repair cross-complementation group 3	343	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				7-methylguanosine mRNA capping (GO:0006370)|apoptotic process (GO:0006915)|DNA repair (GO:0006281)|DNA topological change (GO:0006265)|gene expression (GO:0010467)|hair cell differentiation (GO:0035315)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA duplex unwinding (GO:0000717)|nucleotide-excision repair, DNA incision (GO:0033683)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein localization (GO:0008104)|regulation of mitotic cell cycle phase transition (GO:1901990)|response to hypoxia (GO:0001666)|response to oxidative stress (GO:0006979)|response to UV (GO:0009411)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)|viral process (GO:0016032)	holo TFIIH complex (GO:0005675)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5' DNA helicase activity (GO:0043138)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|damaged DNA binding (GO:0003684)|dATP binding (GO:0032564)|DNA binding (GO:0003677)|GTP binding (GO:0005525)|peptide binding (GO:0042277)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	31	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.073)		TACCACTTACCGCAGGGAAGA	0.532			"""Mis, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													uc002toh.1		NA	yes	Rec		Xeroderma pigmentosum (B)	2	2q21	2071	Mis|S	"""excision repair cross-complementing rodent repair deficiency, complementation group 3 (xeroderma pigmentosum group B complementing)"""			E		skin basal cell|skin squamous cell|melanoma			0				ovary(2)|lung(2)|breast(2)|kidney(1)	7						c.(1027-1029)GGT>AGT	Direct_reversal_of_damage|NER	excision repair cross-complementing rodent		C	SER/GLY	1,4405	2.1+/-5.4	0,1,2202	358.0	355.0	356.0		1027	5.5	1.0	2	dbSNP_134	356	0,8600		0,0,4300	no	missense-near-splice	ERCC3	NM_000122.1	56	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	343/783	128046236	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	2071	Xeroderma_Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	cell cycle checkpoint|DNA topological change|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA duplex unwinding|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein localization|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	3'-5' DNA helicase activity|ATP binding|damaged DNA binding|protein C-terminus binding|protein N-terminus binding|transcription factor binding	g.chr2:128046236C>T	M31899	CCDS2144.1	2q21	2014-09-17	2014-03-07		ENSG00000163161	ENSG00000163161		"""General transcription factors"", ""General transcription factor IIH complex subunits"""	3435	protein-coding gene	gene with protein product	"""xeroderma pigmentosum group B complementing"""	133510	"""excision repair cross-complementing rodent repair deficiency, complementation group 3"""			8202161	Standard	NM_000122		Approved	XPB, BTF2, RAD25, TFIIH, GTF2H	uc002toh.1	P19447	OTTHUMG00000131530	ENST00000285398.2:c.1027+1G>A	2.37:g.128046236C>T						ERCC3_uc002toe.1_Missense_Mutation_p.G98S|ERCC3_uc002tof.1_Missense_Mutation_p.G279S|ERCC3_uc002tog.1_Missense_Mutation_p.G279S|ERCC3_uc010flx.1_Missense_Mutation_p.G98S	p.G343S	NM_000122	NP_000113	P19447	ERCC3_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.073)	7	1122	-	Colorectal(110;0.1)		343			Helicase ATP-binding.|ATP (By similarity).		Q53QM0	Missense_Mutation	SNP	ENST00000285398.2	37	c.1027G>A	CCDS2144.1	.	.	.	.	.	.	.	.	.	.	C	32	5.176843	0.94846	2.27E-4	0.0	ENSG00000163161	ENST00000285398;ENST00000493187	D;D	0.95103	-3.61;-3.61	5.5	5.5	0.81552	DEAD-like helicase (2);Helicase/UvrB domain (1);	0.000000	0.85682	D	0.000000	D	0.98651	0.9548	H	0.98901	4.365	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99556	1.0967	9	.	.	.	-15.7051	19.3996	0.94623	0.0:1.0:0.0:0.0	.	343	P19447	ERCC3_HUMAN	S	343;279	ENSP00000285398:G343S;ENSP00000444796:G279S	.	G	-	1	0	ERCC3	127762706	1.000000	0.71417	1.000000	0.80357	0.425000	0.31504	7.757000	0.85209	2.598000	0.87819	0.655000	0.94253	GGT		0.532	ERCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331028.1	NM_000122	Missense_Mutation	138	291	0	0	0	0	138	291				
LRP1B	53353	broad.mit.edu	37	2	141806669	141806669	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7065-01A-11D-2078-08	TCGA-CQ-7065-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	64c422bb-a531-4636-8e68-bdaf212df6dc	d1cb757d-641c-488c-a845-ee4a1075a662	g.chr2:141806669G>A	ENST00000389484.3	-	11	2646	c.1675C>T	c.(1675-1677)Cgt>Tgt	p.R559C		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	559					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TCTAAAGCACGAGGGTTTACC	0.433										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	uc002tvj.1		NA																	0				lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(1675-1677)CGT>TGT		low density lipoprotein-related protein 1B							201.0	194.0	196.0					2																	141806669		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141806669G>A	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.1675C>T	2.37:g.141806669G>A	ENSP00000374135:p.Arg559Cys	TSP Lung(27;0.18)				LRP1B_uc010fnl.1_Intron	p.R559C	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	11	2647	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	559			Extracellular (Potential).		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.1675C>T	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	G	13.70	2.314371	0.40996	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.91577	-2.87	5.49	4.61	0.57282	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.000000	0.64402	U	0.000002	D	0.88190	0.6370	M	0.75264	2.295	0.58432	D	0.999999	B	0.25809	0.135	B	0.17722	0.019	D	0.84365	0.0540	10	0.36615	T	0.2	.	9.1244	0.36805	0.0739:0.0:0.7802:0.1458	.	559	Q9NZR2	LRP1B_HUMAN	C	559;497	ENSP00000374135:R559C	ENSP00000374135:R559C	R	-	1	0	LRP1B	141523139	1.000000	0.71417	1.000000	0.80357	0.042000	0.13812	6.208000	0.72165	1.295000	0.44724	0.563000	0.77884	CGT		0.433	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		42	111	0	0	0	0	42	111				
SCN2A	6326	broad.mit.edu	37	2	166245201	166245201	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7065-01A-11D-2078-08	TCGA-CQ-7065-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	64c422bb-a531-4636-8e68-bdaf212df6dc	d1cb757d-641c-488c-a845-ee4a1075a662	g.chr2:166245201C>T	ENST00000375437.2	+	27	5175	c.4885C>T	c.(4885-4887)Cgt>Tgt	p.R1629C	SCN2A_ENST00000375427.2_Missense_Mutation_p.R1629C|SCN2A_ENST00000283256.6_Missense_Mutation_p.R1629C|SCN2A_ENST00000357398.3_Missense_Mutation_p.R1629C	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1629			R -> L (in EIEE11). {ECO:0000269|PubMed:23935176}.		intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CCGAGTGATCCGTCTTGCCAG	0.433																																						uc002udc.2		NA																	0				ovary(6)|breast(1)|pancreas(1)	8						c.(4885-4887)CGT>TGT		sodium channel, voltage-gated, type II, alpha	Lamotrigine(DB00555)						110.0	111.0	111.0					2																	166245201		2203	4300	6503	SO:0001583	missense	6326				myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166245201C>T	AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10588	protein-coding gene	gene with protein product		182390	"""sodium channel, voltage-gated, type II, alpha 2 polypeptide"", ""sodium channel, voltage-gated, type II, alpha 1 polypeptide"""	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.4885C>T	2.37:g.166245201C>T	ENSP00000364586:p.Arg1629Cys					SCN2A_uc002udd.2_Missense_Mutation_p.R1629C|SCN2A_uc002ude.2_Missense_Mutation_p.R1629C	p.R1629C	NM_001040142	NP_001035232	Q99250	SCN2A_HUMAN			27	5175	+			1629			Helical; Voltage-sensor; Name=S4 of repeat IV; (Potential).|IV.		A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Missense_Mutation	SNP	ENST00000375437.2	37	c.4885C>T	CCDS33314.1	.	.	.	.	.	.	.	.	.	.	C	17.16	3.319556	0.60524	.	.	ENSG00000136531	ENST00000375437;ENST00000357398;ENST00000283256;ENST00000375427	D;D;D;D	0.98617	-5.03;-5.03;-5.03;-5.03	5.49	5.49	0.81192	Ion transport (1);	0.000000	0.64402	D	0.000002	D	0.99691	0.9883	H	0.99946	5.015	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.977	D	0.96880	0.9645	10	0.87932	D	0	.	19.8035	0.96518	0.0:1.0:0.0:0.0	.	1629;1629	Q99250-2;Q99250	.;SCN2A_HUMAN	C	1629	ENSP00000364586:R1629C;ENSP00000349973:R1629C;ENSP00000283256:R1629C;ENSP00000364576:R1629C	ENSP00000283256:R1629C	R	+	1	0	SCN2A	165953447	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.813000	0.55636	2.751000	0.94390	0.552000	0.68991	CGT		0.433	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000102659.2	NM_021007		19	59	0	0	0	0	19	59				
TTN	7273	broad.mit.edu	37	2	179596537	179596537	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-7065-01A-11D-2078-08	TCGA-CQ-7065-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	64c422bb-a531-4636-8e68-bdaf212df6dc	d1cb757d-641c-488c-a845-ee4a1075a662	g.chr2:179596537C>A	ENST00000591111.1	-	56	16338	c.16114G>T	c.(16114-16116)Gat>Tat	p.D5372Y	TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.D5689Y|TTN_ENST00000342992.6_Missense_Mutation_p.D4445Y|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron			Q8WZ42	TITIN_HUMAN	titin	12191	Ig-like 34.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACCAGATGATCCTGAATGAAA	0.502																																						uc010zfg.1		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(13333-13335)GAT>TAT		titin isoform N2-A							125.0	128.0	127.0					2																	179596537		1987	4163	6150	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179596537C>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.16114G>T	2.37:g.179596537C>A	ENSP00000465570:p.Asp5372Tyr					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.D1106Y	p.D4445Y	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		55	13557	-			5372					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.13333G>T		.	.	.	.	.	.	.	.	.	.	C	1.124	-0.654279	0.03480	.	.	ENSG00000155657	ENST00000342992	T	0.46451	0.87	6.17	5.3	0.74995	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.54759	0.1878	L	0.60957	1.885	0.80722	D	1	D	0.61080	0.989	P	0.58077	0.832	T	0.58875	-0.7559	9	0.87932	D	0	.	12.4156	0.55492	0.0:0.8566:0.0:0.1434	.	5372	Q8WZ42	TITIN_HUMAN	Y	4445	ENSP00000343764:D4445Y	ENSP00000343764:D4445Y	D	-	1	0	TTN	179304782	1.000000	0.71417	0.997000	0.53966	0.080000	0.17528	1.843000	0.39259	1.640000	0.50565	-0.126000	0.14955	GAT		0.502	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		38	97	1	0	6.34e-27	7.16e-27	38	97				
IGFBP5	3488	broad.mit.edu	37	2	217543684	217543684	+	Silent	SNP	C	C	T			TCGA-CQ-7065-01A-11D-2078-08	TCGA-CQ-7065-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	64c422bb-a531-4636-8e68-bdaf212df6dc	d1cb757d-641c-488c-a845-ee4a1075a662	g.chr2:217543684C>T	ENST00000233813.4	-	2	1205	c.456G>A	c.(454-456)gtG>gtA	p.V152V		NM_000599.3	NP_000590.1	P24593	IBP5_HUMAN	insulin-like growth factor binding protein 5	152					cellular protein metabolic process (GO:0044267)|cellular response to cAMP (GO:0071320)|cellular response to organic cyclic compound (GO:0071407)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|hair follicle morphogenesis (GO:0031069)|intracellular signal transduction (GO:0035556)|mammary gland involution (GO:0060056)|negative regulation of cell migration (GO:0030336)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of translation (GO:0017148)|osteoblast differentiation (GO:0001649)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell growth (GO:0001558)|regulation of glucose metabolic process (GO:0010906)|signal transduction (GO:0007165)|skeletal muscle tissue growth (GO:0048630)|striated muscle cell differentiation (GO:0051146)|type B pancreatic cell proliferation (GO:0044342)	extracellular region (GO:0005576)|insulin-like growth factor binding protein complex (GO:0016942)	insulin-like growth factor I binding (GO:0031994)			endometrium(1)|large_intestine(3)|lung(1)	5		Renal(323;0.0822)		Epithelial(149;2.1e-06)|all cancers(144;0.000165)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGTCCTTCTTCACTGCTTCAG	0.597																																						uc002vgj.3		NA																	0					0						c.(454-456)GTG>GTA		insulin-like growth factor binding protein 5							131.0	119.0	123.0					2																	217543684		2203	4300	6503	SO:0001819	synonymous_variant	3488				negative regulation of insulin-like growth factor receptor signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|negative regulation of translation|signal transduction		insulin-like growth factor I binding	g.chr2:217543684C>T		CCDS2405.1	2q35	2014-09-16			ENSG00000115461	ENSG00000115461			5474	protein-coding gene	gene with protein product		146734				7511611	Standard	NM_000599		Approved		uc002vgj.4	P24593	OTTHUMG00000133058	ENST00000233813.4:c.456G>A	2.37:g.217543684C>T							p.V152V	NM_000599	NP_000590	P24593	IBP5_HUMAN		Epithelial(149;2.1e-06)|all cancers(144;0.000165)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	2	1230	-		Renal(323;0.0822)	152					Q5U0A3	Silent	SNP	ENST00000233813.4	37	c.456G>A	CCDS2405.1																																																																																				0.597	IGFBP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256674.2	NM_000599		29	37	0	0	0	0	29	37				
TWF2	11344	broad.mit.edu	37	3	52269072	52269072	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7065-01A-11D-2078-08	TCGA-CQ-7065-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	64c422bb-a531-4636-8e68-bdaf212df6dc	d1cb757d-641c-488c-a845-ee4a1075a662	g.chr3:52269072G>A	ENST00000305533.5	-	2	319	c.76C>T	c.(76-78)Cgg>Tgg	p.R26W	TLR9_ENST00000597542.1_5'UTR|TWF2_ENST00000499914.2_Missense_Mutation_p.R26W	NM_007284.3	NP_009215.1	Q6IBS0	TWF2_HUMAN	twinfilin actin-binding protein 2	26	ADF-H 1. {ECO:0000255|PROSITE- ProRule:PRU00599}.				barbed-end actin filament capping (GO:0051016)|cell projection organization (GO:0030030)|cellular response to growth factor stimulus (GO:0071363)|cellular response to retinoic acid (GO:0071300)|negative regulation of actin filament polymerization (GO:0030837)|positive regulation of axon extension (GO:0045773)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of neuron projection development (GO:0010976)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of microvillus length (GO:0032532)|sequestering of actin monomers (GO:0042989)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|myofibril (GO:0030016)|perinuclear region of cytoplasm (GO:0048471)|stereocilium (GO:0032420)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|poly(A) RNA binding (GO:0044822)|protein kinase C binding (GO:0005080)	p.R26W(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|stomach(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;2.43e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		TTGATGAGCCGCACAGAGCCA	0.582																																						uc003ddd.2		NA																	1	Substitution - Missense(1)		lung(1)	stomach(1)|ovary(1)|lung(1)	3						c.(76-78)CGG>TGG		twinfilin-like protein							118.0	102.0	108.0					3																	52269072		2203	4300	6503	SO:0001583	missense	11344					cytoskeleton|perinuclear region of cytoplasm	actin binding|ATP binding	g.chr3:52269072G>A	Y17169	CCDS2849.1	3p21.1	2013-04-25	2013-04-25	2006-11-13	ENSG00000247596	ENSG00000247596			9621	protein-coding gene	gene with protein product		607433	"""protein tyrosine kinase 9-like (A6-related protein)"", ""PTK9L protein tyrosine kinase 9-like (A6-related protein)"", ""twinfilin, actin-binding protein, homolog 2 (Drosophila)"""	PTK9L		10406962, 12807912	Standard	NM_007284		Approved	A6RP, A6r		Q6IBS0	OTTHUMG00000158105	ENST00000305533.5:c.76C>T	3.37:g.52269072G>A	ENSP00000303908:p.Arg26Trp					TWF2_uc010hmc.2_Missense_Mutation_p.R26W	p.R26W	NM_007284	NP_009215	Q6IBS0	TWF2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.43e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	2	227	-			26			ADF-H 1.		Q9Y3F5	Missense_Mutation	SNP	ENST00000305533.5	37	c.76C>T	CCDS2849.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.169887	0.78452	.	.	ENSG00000247596	ENST00000305533;ENST00000499914	T;T	0.30981	1.51;1.51	4.43	3.46	0.39613	Actin-binding, cofilin/tropomyosin type (2);	.	.	.	.	T	0.64907	0.2641	H	0.94345	3.525	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.76244	-0.3030	9	0.87932	D	0	.	13.8886	0.63724	0.0:0.0:0.837:0.163	.	26;26	D6RG15;Q6IBS0	.;TWF2_HUMAN	W	26	ENSP00000303908:R26W;ENSP00000426464:R26W	ENSP00000303908:R26W	R	-	1	2	TWF2	52244112	1.000000	0.71417	0.982000	0.44146	0.973000	0.67179	5.214000	0.65236	2.302000	0.77476	0.561000	0.74099	CGG		0.582	TWF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350199.2			24	19	0	0	0	0	24	19				
MFN1	55669	broad.mit.edu	37	3	179080166	179080166	+	Missense_Mutation	SNP	T	T	A			TCGA-CQ-7065-01A-11D-2078-08	TCGA-CQ-7065-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	64c422bb-a531-4636-8e68-bdaf212df6dc	d1cb757d-641c-488c-a845-ee4a1075a662	g.chr3:179080166T>A	ENST00000471841.1	+	5	558	c.432T>A	c.(430-432)caT>caA	p.H144Q	MFN1_ENST00000263969.5_Missense_Mutation_p.H144Q|MFN1_ENST00000280653.7_Missense_Mutation_p.H144Q	NM_033540.2	NP_284941	Q8IWA4	MFN1_HUMAN	mitofusin 1	144	Dynamin-type G.				mitochondrial fusion (GO:0008053)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			AACTGGCCCATGCCCTTCACA	0.368																																						uc003fjs.2		NA																	0				ovary(2)|large_intestine(1)	3						c.(430-432)CAT>CAA		mitofusin 1							104.0	98.0	100.0					3																	179080166		2203	4300	6503	SO:0001583	missense	55669				mitochondrial fusion	integral to membrane|mitochondrial outer membrane	GTP binding|GTPase activity	g.chr3:179080166T>A	AF054986	CCDS3228.1	3q26.32	2006-12-13			ENSG00000171109	ENSG00000171109			18262	protein-coding gene	gene with protein product		608506				8358434, 11181170	Standard	NM_033540		Approved	FLJ20693	uc003fjs.3	Q8IWA4	OTTHUMG00000157385	ENST00000471841.1:c.432T>A	3.37:g.179080166T>A	ENSP00000420617:p.His144Gln					MFN1_uc010hxb.2_RNA|MFN1_uc003fjt.2_Missense_Mutation_p.H172Q|MFN1_uc010hxc.2_5'UTR	p.H144Q	NM_033540	NP_284941	Q8IWA4	MFN1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)		5	558	+	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		144			Cytoplasmic (Potential).		B2RAR1|D3DNR6|O15323|O60639|Q9BZB5|Q9NWQ2	Missense_Mutation	SNP	ENST00000471841.1	37	c.432T>A	CCDS3228.1	.	.	.	.	.	.	.	.	.	.	T	16.69	3.193160	0.58017	.	.	ENSG00000171109	ENST00000471841;ENST00000280653;ENST00000539169;ENST00000467174;ENST00000263969;ENST00000474903	D;D;D;D;D	0.96491	-4.03;-4.03;-4.03;-4.03;-4.03	5.54	1.49	0.22878	Dynamin, GTPase domain (1);	0.109197	0.64402	D	0.000002	D	0.97065	0.9041	M	0.77616	2.38	0.58432	D	0.999996	D;D	0.69078	0.997;0.978	D;P	0.67900	0.954;0.861	D	0.94822	0.7988	10	0.36615	T	0.2	-9.9587	9.4462	0.38699	0.0:0.2194:0.0:0.7806	.	172;144	Q4AEJ4;Q8IWA4	.;MFN1_HUMAN	Q	144;144;144;144;144;7	ENSP00000420617:H144Q;ENSP00000280653:H144Q;ENSP00000419134:H144Q;ENSP00000263969:H144Q;ENSP00000419926:H7Q	ENSP00000263969:H144Q	H	+	3	2	MFN1	180562860	0.997000	0.39634	1.000000	0.80357	0.998000	0.95712	0.378000	0.20569	0.077000	0.16863	0.533000	0.62120	CAT		0.368	MFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348654.2	NM_017927		47	34	0	0	0	0	47	34				
TFRC	7037	broad.mit.edu	37	3	195789750	195789750	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7065-01A-11D-2078-08	TCGA-CQ-7065-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	64c422bb-a531-4636-8e68-bdaf212df6dc	d1cb757d-641c-488c-a845-ee4a1075a662	g.chr3:195789750G>A	ENST00000360110.4	-	12	1548	c.1379C>T	c.(1378-1380)tCg>tTg	p.S460L	TFRC_ENST00000540528.1_3'UTR|TFRC_ENST00000535031.1_Missense_Mutation_p.S178L|TFRC_ENST00000392396.3_Missense_Mutation_p.S460L|TFRC_ENST00000420415.1_Missense_Mutation_p.S379L|TFRC_ENST00000465288.1_5'UTR	NM_001128148.1	NP_001121620.1	P02786	TFR1_HUMAN	transferrin receptor	460					cellular iron ion homeostasis (GO:0006879)|iron ion import (GO:0097286)|osteoclast differentiation (GO:0030316)|positive regulation of bone resorption (GO:0045780)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|coated pit (GO:0005905)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|vesicle (GO:0031982)	double-stranded RNA binding (GO:0003725)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|transferrin receptor activity (GO:0004998)			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00233)	Gallium nitrate(DB05260)	GGCACCAACCGATCCAAAGTC	0.448			T	BCL6	NHL																																	uc003fvz.3		NA		Dom	yes		3	3q29	7037	T	"""transferrin receptor (p90, CD71)"""			L	BCL6		NHL		0				ovary(3)	3						c.(1378-1380)TCG>TTG		transferrin receptor							89.0	86.0	87.0					3																	195789750		2203	4300	6503	SO:0001583	missense	7037				cellular iron ion homeostasis|endocytosis|interspecies interaction between organisms|proteolysis|transferrin transport|transmembrane transport	coated pit|endosome|integral to plasma membrane|melanosome	peptidase activity|transferrin receptor activity	g.chr3:195789750G>A	X01060	CCDS3312.1	3q29	2013-09-19	2013-09-19		ENSG00000072274	ENSG00000072274		"""CD molecules"""	11763	protein-coding gene	gene with protein product		190010	"""transferrin receptor (p90, CD71)"""				Standard	NM_003234		Approved	CD71, TFR1, p90	uc003fwa.4	P02786	OTTHUMG00000155714	ENST00000360110.4:c.1379C>T	3.37:g.195789750G>A	ENSP00000353224:p.Ser460Leu					TFRC_uc003fwa.3_Missense_Mutation_p.S460L|TFRC_uc010hzy.2_Missense_Mutation_p.S379L|TFRC_uc011btr.1_Missense_Mutation_p.S178L	p.S460L	NM_003234	NP_003225	P02786	TFR1_HUMAN	Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00233)	12	1662	-	all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		460			Extracellular (Potential).		D3DXB0|Q1HE24|Q59G55|Q9UCN0|Q9UCU5|Q9UDF9|Q9UK21	Missense_Mutation	SNP	ENST00000360110.4	37	c.1379C>T	CCDS3312.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.416405	0.83449	.	.	ENSG00000072274	ENST00000360110;ENST00000420415;ENST00000392396;ENST00000535031	T;T;T;T	0.30448	1.53;1.53;1.53;1.53	5.52	5.52	0.82312	Peptidase M28 (1);	0.249254	0.48767	D	0.000163	T	0.23133	0.0559	N	0.02379	-0.575	0.80722	D	1	D	0.69078	0.997	P	0.58721	0.844	T	0.08534	-1.0717	10	0.02654	T	1	-17.7235	18.3643	0.90385	0.0:0.0:1.0:0.0	.	460	P02786	TFR1_HUMAN	L	460;379;460;178	ENSP00000353224:S460L;ENSP00000390133:S379L;ENSP00000376197:S460L;ENSP00000437753:S178L	ENSP00000353224:S460L	S	-	2	0	TFRC	197274147	1.000000	0.71417	0.965000	0.40720	0.872000	0.50106	4.211000	0.58507	2.761000	0.94854	0.591000	0.81541	TCG		0.448	TFRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341346.1			26	53	0	0	0	0	26	53				
SLIT2	9353	broad.mit.edu	37	4	20544192	20544192	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7065-01A-11D-2078-08	TCGA-CQ-7065-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	64c422bb-a531-4636-8e68-bdaf212df6dc	d1cb757d-641c-488c-a845-ee4a1075a662	g.chr4:20544192G>A	ENST00000504154.1	+	21	2471	c.2219G>A	c.(2218-2220)tGt>tAt	p.C740Y	SLIT2_ENST00000503823.1_Missense_Mutation_p.C732Y|SLIT2_ENST00000273739.5_Missense_Mutation_p.C744Y|SLIT2_ENST00000509394.2_3'UTR|SLIT2_ENST00000503837.1_Missense_Mutation_p.C736Y	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	740	LRRNT 4.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						GTCGTCCGATGTAGCAACAAG	0.418																																						uc003gpr.1		NA																	0				central_nervous_system(4)|skin(4)|ovary(3)	11						c.(2218-2220)TGT>TAT		slit homolog 2 precursor							307.0	288.0	295.0					4																	20544192		2203	4300	6503	SO:0001583	missense	9353				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding	g.chr4:20544192G>A	AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"""slit (Drosophila) homolog 2"""	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.2219G>A	4.37:g.20544192G>A	ENSP00000422591:p.Cys740Tyr					SLIT2_uc003gps.1_Missense_Mutation_p.C732Y	p.C740Y	NM_004787	NP_004778	O94813	SLIT2_HUMAN			21	2423	+			740			LRRNT 4.		B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Missense_Mutation	SNP	ENST00000504154.1	37	c.2219G>A	CCDS3426.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.230258	0.79688	.	.	ENSG00000145147	ENST00000503823;ENST00000504154;ENST00000273739;ENST00000382173;ENST00000503837	D;D;D;D	0.99985	-11.65;-11.65;-11.65;-11.65	5.66	5.66	0.87406	Leucine-rich repeat-containing N-terminal (2);	0.000000	0.85682	D	0.000000	D	0.99988	0.9998	H	0.97540	4.025	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.997;1.0	D	0.99983	1.2881	10	0.66056	D	0.02	.	19.7439	0.96243	0.0:0.0:1.0:0.0	.	732;740	O94813-3;O94813	.;SLIT2_HUMAN	Y	732;740;744;736;736	ENSP00000427548:C732Y;ENSP00000422591:C740Y;ENSP00000273739:C744Y;ENSP00000422261:C736Y	ENSP00000273739:C744Y	C	+	2	0	SLIT2	20153290	1.000000	0.71417	1.000000	0.80357	0.675000	0.39556	9.476000	0.97823	2.669000	0.90835	0.655000	0.94253	TGT		0.418	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2			91	158	0	0	0	0	91	158				
ASB5	140458	broad.mit.edu	37	4	177136850	177136850	+	Silent	SNP	G	G	A	rs201956027		TCGA-CQ-7065-01A-11D-2078-08	TCGA-CQ-7065-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	64c422bb-a531-4636-8e68-bdaf212df6dc	d1cb757d-641c-488c-a845-ee4a1075a662	g.chr4:177136850G>A	ENST00000296525.3	-	7	1004	c.891C>T	c.(889-891)tgC>tgT	p.C297C	ASB5_ENST00000512254.1_Silent_p.C244C	NM_080874.3	NP_543150.1	Q8WWX0	ASB5_HUMAN	ankyrin repeat and SOCS box containing 5	297	SOCS box. {ECO:0000255|PROSITE- ProRule:PRU00194}.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2)	34		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)		TACAGAGTCGGCAAAGTTGGT	0.358																																						uc003iuq.1		NA																	0				skin(2)	2						c.(889-891)TGC>TGT		ankyrin repeat and SOCS box-containing protein							105.0	101.0	102.0					4																	177136850		2203	4300	6503	SO:0001819	synonymous_variant	140458				intracellular signal transduction			g.chr4:177136850G>A	AY057053	CCDS3827.1	4q34.1	2013-01-10	2011-01-25		ENSG00000164122	ENSG00000164122		"""Ankyrin repeat domain containing"""	17180	protein-coding gene	gene with protein product		615050	"""ankyrin repeat and SOCS box-containing 5"""				Standard	NM_080874		Approved		uc003iuq.2	Q8WWX0	OTTHUMG00000160793	ENST00000296525.3:c.891C>T	4.37:g.177136850G>A						ASB5_uc003iup.1_Silent_p.C244C	p.C297C	NM_080874	NP_543150	Q8WWX0	ASB5_HUMAN		all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)	7	907	-		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	297			SOCS box.		Q8N7B5	Silent	SNP	ENST00000296525.3	37	c.891C>T	CCDS3827.1																																																																																				0.358	ASB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362344.1			3	30	0	0	0	0	3	30				
KCNN2	3781	broad.mit.edu	37	5	113829157	113829157	+	Silent	SNP	G	G	A			TCGA-CQ-7065-01A-11D-2078-08	TCGA-CQ-7065-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	64c422bb-a531-4636-8e68-bdaf212df6dc	d1cb757d-641c-488c-a845-ee4a1075a662	g.chr5:113829157G>A	ENST00000512097.3	+	8	2458	c.1440G>A	c.(1438-1440)gtG>gtA	p.V480V	KCNN2_ENST00000264773.3_Silent_p.V480V|KCNN2_ENST00000507750.1_3'UTR|KCNN2_ENST00000503706.1_Silent_p.V132V|RP11-492A10.1_ENST00000514115.1_RNA			Q9H2S1	KCNN2_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2	480	Calmodulin-binding. {ECO:0000250}.				potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of potassium ion transmembrane transport (GO:1901379)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calcium-activated potassium channel activity (GO:0015269)|calmodulin binding (GO:0005516)|protein homodimerization activity (GO:0042803)|small conductance calcium-activated potassium channel activity (GO:0016286)			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)	Miconazole(DB01110)|Procaine(DB00721)	ACACTTTGGTGGACTTGGCAA	0.408																																						uc003kqo.2		NA																	0				ovary(2)	2						c.(1438-1440)GTG>GTA		small conductance calcium-activated potassium							103.0	98.0	100.0					5																	113829157		2202	4300	6502	SO:0001819	synonymous_variant	3781					integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity	g.chr5:113829157G>A	AF239613	CCDS4114.1, CCDS43352.1	5q22.3	2012-07-05			ENSG00000080709	ENSG00000080709		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6291	protein-coding gene	gene with protein product		605879				16382103	Standard	NM_001278204		Approved	KCa2.2, hSK2	uc003kqo.3	Q9H2S1	OTTHUMG00000128836	ENST00000512097.3:c.1440G>A	5.37:g.113829157G>A						KCNN2_uc003kqp.2_Silent_p.V132V|KCNN2_uc010jcg.2_RNA|uc003kqr.1_Intron	p.V480V	NM_021614	NP_067627	Q9H2S1	KCNN2_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)	7	1897	+		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)	480			Calmodulin-binding (By similarity).		A6NF94|Q0VFZ4|Q6PJI0|Q6X2Y2	Silent	SNP	ENST00000512097.3	37	c.1440G>A	CCDS4114.1																																																																																				0.408	KCNN2-001	KNOWN	not_organism_supported|upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250775.2	NM_021614		8	19	0	0	0	0	8	19				
CEP120	153241	broad.mit.edu	37	5	122725742	122725742	+	Silent	SNP	C	C	T			TCGA-CQ-7065-01A-11D-2078-08	TCGA-CQ-7065-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	64c422bb-a531-4636-8e68-bdaf212df6dc	d1cb757d-641c-488c-a845-ee4a1075a662	g.chr5:122725742C>T	ENST00000306467.5	-	8	1435	c.1131G>A	c.(1129-1131)ggG>ggA	p.G377G	CEP120_ENST00000306481.6_Silent_p.G351G|CEP120_ENST00000328236.5_Silent_p.G377G			Q8N960	CE120_HUMAN	centrosomal protein 120kDa	377					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)|regulation of protein localization (GO:0032880)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	29						GTGATTTTGGCCCAGTAAGTG	0.393																																						uc003ktk.2		NA																	0				ovary(1)	1						c.(1129-1131)GGG>GGA		coiled-coil domain containing 100							170.0	156.0	160.0					5																	122725742		1896	4122	6018	SO:0001819	synonymous_variant	153241					centrosome		g.chr5:122725742C>T	AK095646	CCDS4134.2, CCDS54890.1	5q23.2	2014-02-20	2008-08-14	2008-08-14	ENSG00000168944	ENSG00000168944			26690	protein-coding gene	gene with protein product		613446	"""coiled-coil domain containing 100"""	CCDC100		17920017	Standard	NM_153223		Approved	FLJ36090	uc003ktk.3	Q8N960	OTTHUMG00000128922	ENST00000306467.5:c.1131G>A	5.37:g.122725742C>T						CEP120_uc011cwq.1_Silent_p.G186G|CEP120_uc010jcz.1_Silent_p.G351G	p.G377G	NM_153223	NP_694955	Q8N960	CE120_HUMAN			9	1213	-			377					Q6AI52|Q6AW89|Q8IWB5|Q8N9Y0|Q8NDE8	Silent	SNP	ENST00000306467.5	37	c.1131G>A	CCDS4134.2																																																																																				0.393	CEP120-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250899.2	NM_153223		3	41	0	0	0	0	3	41				
PCDHA4	56144	broad.mit.edu	37	5	140189040	140189040	+	Silent	SNP	G	G	A	rs146943849	byFrequency	TCGA-CQ-7065-01A-11D-2078-08	TCGA-CQ-7065-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	64c422bb-a531-4636-8e68-bdaf212df6dc	d1cb757d-641c-488c-a845-ee4a1075a662	g.chr5:140189040G>A	ENST00000530339.1	+	1	2268	c.2268G>A	c.(2266-2268)ccG>ccA	p.P756P	PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Silent_p.P756P|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000356878.4_Silent_p.P756P|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018907.2	NP_061730.1	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4	756	6 X 4 AA repeats of P-X-X-P.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAGGAGGCCGAGGGTGTGCT	0.652													.|||	7	0.00139776	0.0008	0.0	5008	,	,		15883	0.0		0.006	False		,,,				2504	0.0					uc003lhi.2		NA																	0				ovary(4)|skin(2)	6						c.(2266-2268)CCG>CCA		protocadherin alpha 4 isoform 1 precursor		G	,,,,,	3,4403	6.2+/-15.9	1,1,2201	89.0	92.0	91.0		,,,2268,,2268	0.9	0.9	5	dbSNP_134	91	16,8584	11.2+/-40.8	0,16,4284	no	intron,intron,intron,coding-synonymous,intron,coding-synonymous	PCDHA4,PCDHA3,PCDHA2,PCDHA1	NM_018900.2,NM_018905.2,NM_018906.2,NM_018907.2,NM_031411.1,NM_031500.1	,,,,,	1,17,6485	AA,AG,GG		0.186,0.0681,0.1461	,,,,,	,,,756/948,,756/799	140189040	19,12987	2203	4300	6503	SO:0001819	synonymous_variant	56144				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140189040G>A	AF152482	CCDS54916.1	5q31	2010-11-26				ENSG00000204967		"""Cadherins / Protocadherins : Clustered"""	8670	other	complex locus constituent	"""ortholog of mouse CNR1, KIAA0345-like 10"""	606310				10380929, 10662547	Standard	NM_018907		Approved	CNR1, CRNR1, PCDH-ALPHA4, CNRN1		Q9UN74		ENST00000530339.1:c.2268G>A	5.37:g.140189040G>A						PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhh.1_Silent_p.P756P|PCDHA4_uc011daa.1_Silent_p.P756P	p.P756P	NM_018907	NP_061730	Q9UN74	PCDA4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2369	+			756			Cytoplasmic (Potential).|6 X 4 AA repeats of P-X-X-P.		O75285|Q2M253	Silent	SNP	ENST00000530339.1	37	c.2268G>A	CCDS54916.1																																																																																				0.652	PCDHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372864.2	NM_018907		4	56	0	0	0	0	4	56				
PCDHA12	56137	broad.mit.edu	37	5	140255408	140255408	+	Silent	SNP	C	C	T	rs199848124	byFrequency	TCGA-CQ-7065-01A-11D-2078-08	TCGA-CQ-7065-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	64c422bb-a531-4636-8e68-bdaf212df6dc	d1cb757d-641c-488c-a845-ee4a1075a662	g.chr5:140255408C>T	ENST00000398631.2	+	1	351	c.351C>T	c.(349-351)ttC>ttT	p.F117F	PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12	117	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCAGGTTTTCCATGTGGACG	0.562													.|||	5	0.000998403	0.0008	0.0	5008	,	,		15847	0.0		0.004	False		,,,				2504	0.0				Pancreas(113;759 1672 13322 24104 50104)	uc003lic.2		NA																	0					0						c.(349-351)TTC>TTT		protocadherin alpha 12 isoform 1 precursor		C	,,,,,,,,,,,,,,,	2,4404	4.2+/-10.8	0,2,2201	106.0	121.0	116.0		,,,351,,,,,,,,,,,,351	5.3	1.0	5		116	14,8582	9.8+/-36.6	0,14,4284	no	intron,intron,intron,coding-synonymous,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,coding-synonymous	PCDHA9,PCDHA12,PCDHA11,PCDHA10,PCDHA8,PCDHA7,PCDHA6,PCDHA5,PCDHA4,PCDHA3,PCDHA2,PCDHA1	NM_018900.2,NM_018901.2,NM_018902.3,NM_018903.2,NM_018905.2,NM_018906.2,NM_018907.2,NM_018908.2,NM_018909.2,NM_018910.2,NM_018911.2,NM_031411.1,NM_031849.1,NM_031857.1,NM_031860.1,NM_031864.1	,,,,,,,,,,,,,,,	0,16,6485	TT,TC,CC		0.1629,0.0454,0.1231	,,,,,,,,,,,,,,,	,,,117/942,,,,,,,,,,,,117/793	140255408	16,12986	2203	4298	6501	SO:0001819	synonymous_variant	56137				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr5:140255408C>T	AF152477	CCDS47285.1, CCDS75327.1	5q31	2010-11-26			ENSG00000251664	ENSG00000251664		"""Cadherins / Protocadherins : Clustered"""	8666	other	complex locus constituent	"""KIAA0345-like 2"""	606318				10380929	Standard	NM_018903		Approved	PCDH-ALPHA12	uc003lic.2	Q9UN75	OTTHUMG00000163366	ENST00000398631.2:c.351C>T	5.37:g.140255408C>T						PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc011daf.1_Silent_p.F117F	p.F117F	NM_018903	NP_061726	Q9UN75	PCDAC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	478	+			117			Cadherin 1.|Extracellular (Potential).		O75278|Q2M1N8	Silent	SNP	ENST00000398631.2	37	c.351C>T	CCDS47285.1																																																																																				0.562	PCDHA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372882.2	NM_018903		6	133	0	0	0	0	6	133				
EPHB4	2050	broad.mit.edu	37	7	100420084	100420084	+	Missense_Mutation	SNP	C	C	T	rs557044427		TCGA-CQ-7065-01A-11D-2078-08	TCGA-CQ-7065-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	64c422bb-a531-4636-8e68-bdaf212df6dc	d1cb757d-641c-488c-a845-ee4a1075a662	g.chr7:100420084C>T	ENST00000358173.3	-	4	1085	c.617G>A	c.(616-618)cGa>cAa	p.R206Q	EPHB4_ENST00000477446.1_5'UTR|RN7SL750P_ENST00000582814.1_RNA|EPHB4_ENST00000360620.3_Missense_Mutation_p.R206Q	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	206	Cys-rich.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|ephrin receptor signaling pathway (GO:0048013)|heart morphogenesis (GO:0003007)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					CTCCGGGAATCGAGTCAGGTT	0.652													C|||	1	0.000199681	0.0	0.0	5008	,	,		15003	0.001		0.0	False		,,,				2504	0.0				GBM(200;2113 3072 25865 52728)	uc003uwn.1		NA																	0				lung(4)|stomach(3)|skin(3)|central_nervous_system(2)|ovary(2)|breast(1)	15						c.(616-618)CGA>CAA		EPH receptor B4 precursor							48.0	50.0	49.0					7																	100420084		2203	4300	6503	SO:0001583	missense	2050				cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:100420084C>T	AY056047	CCDS5706.1	7q22	2013-02-11	2004-10-28		ENSG00000196411	ENSG00000196411		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3395	protein-coding gene	gene with protein product		600011	"""EphB4"""	HTK		8188704	Standard	NM_004444		Approved	Tyro11	uc003uwn.1	P54760	OTTHUMG00000157040	ENST00000358173.3:c.617G>A	7.37:g.100420084C>T	ENSP00000350896:p.Arg206Gln					EPHB4_uc003uwm.1_Missense_Mutation_p.R113Q|EPHB4_uc010lhj.1_Missense_Mutation_p.R206Q|EPHB4_uc011kkf.1_Missense_Mutation_p.R206Q|EPHB4_uc011kkg.1_Missense_Mutation_p.R206Q|EPHB4_uc011kkh.1_Missense_Mutation_p.R206Q	p.R206Q	NM_004444	NP_004435	P54760	EPHB4_HUMAN			4	1108	-	Lung NSC(181;0.041)|all_lung(186;0.0581)		206			Extracellular (Potential).|Cys-rich.		B5A970|B5A971|B5A972|Q7Z635|Q9BTA5|Q9BXP0	Missense_Mutation	SNP	ENST00000358173.3	37	c.617G>A	CCDS5706.1	.	.	.	.	.	.	.	.	.	.	C	9.094	1.002416	0.19121	.	.	ENSG00000196411	ENST00000360620;ENST00000358173	T;T	0.73047	-0.71;-0.7	5.76	-7.54	0.01332	.	1.619090	0.03349	N	0.195892	T	0.44932	0.1317	N	0.12502	0.225	0.09310	N	1	B;B;B;B;B	0.34200	0.059;0.441;0.017;0.059;0.148	B;B;B;B;B	0.17722	0.009;0.009;0.009;0.009;0.019	T	0.36311	-0.9753	10	0.15499	T	0.54	.	13.2095	0.59817	0.0:0.2287:0.0875:0.6839	.	206;206;206;206;206	B5A972;B5A971;B5A970;Q96L35;P54760	.;.;.;.;EPHB4_HUMAN	Q	206	ENSP00000353833:R206Q;ENSP00000350896:R206Q	ENSP00000350896:R206Q	R	-	2	0	EPHB4	100258020	0.000000	0.05858	0.073000	0.20177	0.877000	0.50540	-2.272000	0.01165	-1.621000	0.01562	-0.150000	0.13652	CGA		0.652	EPHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347222.1	NM_004444		5	14	0	0	0	0	5	14				
ST7	7982	broad.mit.edu	37	7	116869938	116869938	+	3'UTR	SNP	A	A	C	rs201022134		TCGA-CQ-7065-01A-11D-2078-08	TCGA-CQ-7065-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	64c422bb-a531-4636-8e68-bdaf212df6dc	d1cb757d-641c-488c-a845-ee4a1075a662	g.chr7:116869938A>C	ENST00000393446.2	+	0	1902				ST7_ENST00000323984.3_3'UTR|ST7_ENST00000393444.3_3'UTR|ST7_ENST00000393447.4_3'UTR|ST7_ENST00000393443.1_3'UTR|ST7_ENST00000393449.1_3'UTR|ST7_ENST00000432298.1_3'UTR|ST7_ENST00000422922.1_3'UTR|ST7_ENST00000393451.3_3'UTR			Q9Y561	LRP12_HUMAN	suppression of tumorigenicity 7						endocytosis (GO:0006897)|receptor-mediated endocytosis (GO:0006898)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	low-density lipoprotein receptor activity (GO:0005041)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(1)	21	all_cancers(3;3.88e-07)|all_epithelial(6;3.42e-07)|Lung NSC(10;0.00072)|all_lung(10;0.000847)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		CACTCACCTCACCCGCCGCTG	0.507																																						uc011knn.1		NA																	0				central_nervous_system(1)|skin(1)	2						c.(1465-1467)ACC>CCC		suppression of tumorigenicity 7 isoform b							60.0	58.0	59.0					7																	116869938		2203	4300	6503	SO:0001624	3_prime_UTR_variant	7982					integral to membrane	binding	g.chr7:116869938A>C	AJ277291	CCDS5769.1, CCDS5770.1	7q31.2	2008-06-06			ENSG00000004866	ENSG00000004866			11351	protein-coding gene	gene with protein product		600833		FAM4A1		8105370, 8938430	Standard	NM_021908		Approved	TSG7, SEN4, ETS7q, HELG, RAY1, FAM4A	uc003vin.3	Q9NRC1	OTTHUMG00000023888	ENST00000393446.2:c.*27A>C	7.37:g.116869938A>C						ST7_uc003vio.2_3'UTR|ST7_uc003viq.2_3'UTR|ST7_uc011knm.1_3'UTR|ST7_uc003vir.2_3'UTR	p.T489P	NM_021908	NP_068708	Q9NRC1	ST7_HUMAN	STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)	14	1470	+	all_cancers(3;3.88e-07)|all_epithelial(6;3.42e-07)|Lung NSC(10;0.00072)|all_lung(10;0.000847)		Error:Variant_position_missing_in_Q9NRC1_after_alignment					A8K137|B4DRQ2	Missense_Mutation	SNP	ENST00000393446.2	37	c.1465A>C		.	.	.	.	.	.	.	.	.	.	A	3.912	-0.019789	0.07634	.	.	ENSG00000004866	ENST00000446490;ENST00000490039	T;T	0.20069	2.1;2.1	4.85	-9.7	0.00521	.	.	.	.	.	T	0.12902	0.0313	.	.	.	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.16988	-1.0384	8	0.87932	D	0	.	8.0486	0.30564	0.3268:0.2885:0.3847:0.0	.	489	C9JU30	.	P	487;489	ENSP00000402934:T487P;ENSP00000419516:T489P	ENSP00000402934:T487P	T	+	1	0	ST7	116657174	0.000000	0.05858	0.008000	0.14137	0.044000	0.14063	-0.532000	0.06164	-1.939000	0.01044	-1.252000	0.01501	ACC		0.507	ST7-013	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000319687.1	NM_021908		11	29	0	0	0	0	11	29				
CNBD1	168975	broad.mit.edu	37	8	87917339	87917339	+	Silent	SNP	C	C	T	rs199778499		TCGA-CQ-7065-01A-11D-2078-08	TCGA-CQ-7065-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	64c422bb-a531-4636-8e68-bdaf212df6dc	d1cb757d-641c-488c-a845-ee4a1075a662	g.chr8:87917339C>T	ENST00000518476.1	+	3	240	c.189C>T	c.(187-189)caC>caT	p.H63H		NM_173538.2	NP_775809.1	Q8NA66	CNBD1_HUMAN	cyclic nucleotide binding domain containing 1	63										breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						TATCAGCTCACGATACATTTA	0.343													C|||	1	0.000199681	0.0	0.0	5008	,	,		15453	0.0		0.001	False		,,,				2504	0.0					uc003ydy.2		NA																	0				ovary(3)	3						c.(187-189)CAC>CAT		cyclic nucleotide binding domain containing 1		C		0,3694		0,0,1847	84.0	75.0	78.0		189	0.1	0.0	8		78	3,8185		0,3,4091	no	coding-synonymous	CNBD1	NM_173538.2		0,3,5938	TT,TC,CC		0.0366,0.0,0.0252		63/437	87917339	3,11879	1847	4094	5941	SO:0001819	synonymous_variant	168975							g.chr8:87917339C>T	AK093121	CCDS55259.1	8q21.3	2005-08-09				ENSG00000176571			26663	protein-coding gene	gene with protein product							Standard	NM_173538		Approved	FLJ35802	uc003ydy.2	Q8NA66		ENST00000518476.1:c.189C>T	8.37:g.87917339C>T							p.H63H	NM_173538	NP_775809	Q8NA66	CNBD1_HUMAN			3	237	+			63						Silent	SNP	ENST00000518476.1	37	c.189C>T	CCDS55259.1																																																																																				0.343	CNBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375113.2	NM_173538		6	20	0	0	0	0	6	20				
MAGEB2	4113	broad.mit.edu	37	X	30236705	30236705	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7065-01A-11D-2078-08	TCGA-CQ-7065-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	64c422bb-a531-4636-8e68-bdaf212df6dc	d1cb757d-641c-488c-a845-ee4a1075a662	g.chrX:30236705G>A	ENST00000378988.4	+	2	109	c.8G>A	c.(7-9)cGt>cAt	p.R3H		NM_002364.4	NP_002355.2	O15479	MAGB2_HUMAN	melanoma antigen family B, 2	3										breast(1)|large_intestine(3)|lung(17)|ovary(1)|skin(1)	23						ATCATGCCTCGTGGTCAGAAG	0.527													G|||	1	0.000264901	0.0	0.0	3775	,	,		14416	0.001		0.0	False		,,,				2504	0.0					uc004dbz.2		NA																	0				ovary(1)	1						c.(7-9)CGT>CAT		melanoma antigen family B, 2							40.0	39.0	40.0					X																	30236705		2202	4300	6502	SO:0001583	missense	4113						protein binding	g.chrX:30236705G>A	AF015766	CCDS14219.1	Xp21.3	2009-03-17			ENSG00000099399	ENSG00000099399			6809	protein-coding gene	gene with protein product	"""DSS/AHC critical interval MAGE superfamily 6"", ""melanoma-associated antigen B2"", ""cancer/testis antigen family 3, member 2"""	300098				9441743	Standard	NM_002364		Approved	DAM6, MAGE-XP-2, MGC26438, CT3.2	uc004dbz.3	O15479	OTTHUMG00000021319	ENST00000378988.4:c.8G>A	X.37:g.30236705G>A	ENSP00000368273:p.Arg3His						p.R3H	NM_002364	NP_002355	O15479	MAGB2_HUMAN			2	111	+			3					O75860	Missense_Mutation	SNP	ENST00000378988.4	37	c.8G>A	CCDS14219.1	.	.	.	.	.	.	.	.	.	.	G	16.41	3.116268	0.56505	.	.	ENSG00000099399	ENST00000378988	T	0.07216	3.21	3.43	0.672	0.17935	Melanoma associated antigen, MAGE, N-terminal (1);	0.406619	0.24206	N	0.040576	T	0.28566	0.0707	M	0.91300	3.195	0.22112	N	0.999359	D	0.89917	1.0	D	0.97110	1.0	T	0.05903	-1.0857	10	0.56958	D	0.05	.	5.1675	0.15094	0.4299:0.0:0.5701:0.0	.	3	O15479	MAGB2_HUMAN	H	3	ENSP00000368273:R3H	ENSP00000368273:R3H	R	+	2	0	MAGEB2	30146626	0.718000	0.27976	0.460000	0.27093	0.284000	0.27059	0.838000	0.27572	0.018000	0.15052	-0.322000	0.08575	CGT		0.527	MAGEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056157.1	NM_002364		28	5	0	0	0	0	28	5				
MAGEC3	139081	broad.mit.edu	37	X	140985590	140985590	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-7065-01A-11D-2078-08	TCGA-CQ-7065-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	64c422bb-a531-4636-8e68-bdaf212df6dc	d1cb757d-641c-488c-a845-ee4a1075a662	g.chrX:140985590T>C	ENST00000298296.1	+	8	1904	c.1904T>C	c.(1903-1905)gTc>gCc	p.V635A	MAGEC3_ENST00000409007.1_3'UTR|MAGEC3_ENST00000443323.2_3'UTR|MAGEC3_ENST00000536088.1_3'UTR|MAGEC3_ENST00000544766.1_3'UTR	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	635	MAGE 2. {ECO:0000255|PROSITE- ProRule:PRU00127}.									NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					AGCCCCAGTGTCATGTCCACC	0.517																																						uc011mwp.1		NA																	0				skin(2)|central_nervous_system(1)	3						c.(1903-1905)GTC>GCC		melanoma antigen family C, 3 isoform 1							71.0	60.0	63.0					X																	140985590		2203	4300	6503	SO:0001583	missense	139081							g.chrX:140985590T>C	AF490508	CCDS14676.1, CCDS14677.1	Xq27.2	2009-03-25			ENSG00000165509	ENSG00000165509			23798	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 2"""	300469				10861452	Standard	NM_138702		Approved	HCA2, MAGE-C3, CT7.2	uc011mwp.2	Q8TD91	OTTHUMG00000022570	ENST00000298296.1:c.1904T>C	X.37:g.140985590T>C	ENSP00000298296:p.Val635Ala					MAGEC3_uc004fbs.2_3'UTR|MAGEC3_uc010nsj.2_3'UTR	p.V635A	NM_138702	NP_619647	Q8TD91	MAGC3_HUMAN			8	1904	+	Acute lymphoblastic leukemia(192;6.56e-05)		635			MAGE 2.		Q3SYA7|Q5JZ43|Q9BZ80	Missense_Mutation	SNP	ENST00000298296.1	37	c.1904T>C	CCDS14676.1	.	.	.	.	.	.	.	.	.	.	t	3.295	-0.144059	0.06627	.	.	ENSG00000165509	ENST00000298296	T	0.03212	4.01	0.731	0.731	0.18277	.	.	.	.	.	T	0.02119	0.0066	N	0.16066	0.365	0.09310	N	1	B	0.18013	0.025	B	0.17979	0.02	T	0.49254	-0.8959	8	0.11182	T	0.66	.	.	.	.	.	635	Q8TD91	MAGC3_HUMAN	A	635	ENSP00000298296:V635A	ENSP00000298296:V635A	V	+	2	0	MAGEC3	140813256	0.000000	0.05858	0.001000	0.08648	0.078000	0.17371	-0.408000	0.07169	0.503000	0.28060	0.150000	0.16122	GTC		0.517	MAGEC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058606.1	NM_138702		24	43	0	0	0	0	24	43				
MAGEC1	9947	broad.mit.edu	37	X	140994879	140994879	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CQ-7065-01A-11D-2078-08	TCGA-CQ-7065-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	64c422bb-a531-4636-8e68-bdaf212df6dc	d1cb757d-641c-488c-a845-ee4a1075a662	g.chrX:140994879C>G	ENST00000285879.4	+	4	1975	c.1689C>G	c.(1687-1689)taC>taG	p.Y563*	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	563										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					CTCCTCACTACTTTCCTCAGA	0.572										HNSCC(15;0.026)																												uc004fbt.2		NA																	0				ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4						c.(1687-1689)TAC>TAG		melanoma antigen family C, 1							231.0	249.0	243.0					X																	140994879		2203	4300	6503	SO:0001587	stop_gained	9947						protein binding	g.chrX:140994879C>G	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 1"""	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.1689C>G	X.37:g.140994879C>G	ENSP00000285879:p.Tyr563*	HNSCC(15;0.026)				MAGEC1_uc010nsl.1_Intron	p.Y563*	NM_005462	NP_005453	O60732	MAGC1_HUMAN			4	1975	+	Acute lymphoblastic leukemia(192;6.56e-05)		563					A0PK03|O75451|Q8TCV4	Nonsense_Mutation	SNP	ENST00000285879.4	37	c.1689C>G	CCDS35417.1	.	.	.	.	.	.	.	.	.	.	c	36	5.717184	0.96839	.	.	ENSG00000155495	ENST00000285879	.	.	.	0.92	0.92	0.19397	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.6329	0.28249	0.0:0.9999:0.0:1.0E-4	.	.	.	.	X	563	.	ENSP00000285879:Y563X	Y	+	3	2	MAGEC1	140822545	0.000000	0.05858	0.122000	0.21767	0.122000	0.20287	-2.061000	0.01391	0.179000	0.19938	0.181000	0.17075	TAC		0.572	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		12	457	0	0	0	0	12	457				
G6PD	2539	broad.mit.edu	37	X	153763390	153763390	+	Missense_Mutation	SNP	T	T	G			TCGA-CQ-7065-01A-11D-2078-08	TCGA-CQ-7065-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	64c422bb-a531-4636-8e68-bdaf212df6dc	d1cb757d-641c-488c-a845-ee4a1075a662	g.chrX:153763390T>G	ENST00000393564.2	-	5	590	c.478A>C	c.(478-480)Agc>Cgc	p.S160R	G6PD_ENST00000393562.2_Missense_Mutation_p.S190R|G6PD_ENST00000497281.1_5'UTR|G6PD_ENST00000369620.2_Missense_Mutation_p.S160R	NM_001042351.1	NP_001035810.1	P11413	G6PD_HUMAN	glucose-6-phosphate dehydrogenase	160					carbohydrate metabolic process (GO:0005975)|cellular response to oxidative stress (GO:0034599)|cholesterol biosynthetic process (GO:0006695)|cytokine production (GO:0001816)|erythrocyte maturation (GO:0043249)|glucose 6-phosphate metabolic process (GO:0051156)|glutathione metabolic process (GO:0006749)|lipid metabolic process (GO:0006629)|NADP metabolic process (GO:0006739)|NADPH regeneration (GO:0006740)|negative regulation of protein glutathionylation (GO:0010734)|oxidation-reduction process (GO:0055114)|pentose biosynthetic process (GO:0019322)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, oxidative branch (GO:0009051)|regulation of neuron apoptotic process (GO:0043523)|response to ethanol (GO:0045471)|response to food (GO:0032094)|response to organic cyclic compound (GO:0014070)|ribose phosphate biosynthetic process (GO:0046390)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	glucose binding (GO:0005536)|glucose-6-phosphate dehydrogenase activity (GO:0004345)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(3)|ovary(4)	18	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TACATCTGGCTCATGCAGGAC	0.652																																						uc004fly.1		NA																	0				ovary(4)	4						c.(478-480)AGC>CGC		glucose-6-phosphate dehydrogenase isoform b							140.0	110.0	120.0					X																	153763390		2203	4300	6503	SO:0001583	missense	2539				cellular response to oxidative stress|cholesterol biosynthetic process|cytokine production|erythrocyte maturation|glucose 6-phosphate metabolic process|glutathione metabolic process|negative regulation of protein glutathionylation|pentose-phosphate shunt, oxidative branch|ribose phosphate biosynthetic process	centrosome|cytosol|internal side of plasma membrane|intracellular membrane-bounded organelle	glucose binding|glucose-6-phosphate dehydrogenase activity|NADP binding|protein homodimerization activity	g.chrX:153763390T>G	X03674	CCDS14756.2, CCDS44023.1	Xq28	2014-09-17			ENSG00000160211	ENSG00000160211	1.1.1.49		4057	protein-coding gene	gene with protein product		305900				3012556, 2428611	Standard	NM_000402		Approved	G6PD1	uc004flx.1	P11413	OTTHUMG00000024237	ENST00000393564.2:c.478A>C	X.37:g.153763390T>G	ENSP00000377194:p.Ser160Arg					G6PD_uc004flx.1_Missense_Mutation_p.S190R	p.S160R	NM_001042351	NP_001035810	P11413	G6PD_HUMAN			5	591	-	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		160					D3DWX9|Q16000|Q16765|Q8IU70|Q8IU88|Q8IUA6|Q96PQ2	Missense_Mutation	SNP	ENST00000393564.2	37	c.478A>C	CCDS44023.1	.	.	.	.	.	.	.	.	.	.	T	17.67	3.447057	0.63178	.	.	ENSG00000160211	ENST00000393562;ENST00000291567;ENST00000393564;ENST00000369620;ENST00000439227;ENST00000440967;ENST00000433845	D;D;D;D;D;D	0.98234	-4.81;-4.81;-4.81;-4.81;-4.81;-4.81	5.35	5.35	0.76521	NAD(P)-binding domain (1);Glucose-6-phosphate dehydrogenase, NAD-binding (1);	0.000000	0.85682	D	0.000000	D	0.98767	0.9585	M	0.85542	2.76	0.80722	D	1	D;D	0.71674	0.998;0.997	D;D	0.71870	0.975;0.969	D	0.99624	1.0984	10	0.72032	D	0.01	.	10.7036	0.45942	0.0:0.0:0.0:1.0	.	160;190	P11413;P11413-3	G6PD_HUMAN;.	R	190;160;160;160;160;160;160	ENSP00000377192:S190R;ENSP00000377194:S160R;ENSP00000358633:S160R;ENSP00000395599:S160R;ENSP00000400648:S160R;ENSP00000394690:S160R	ENSP00000291567:S160R	S	-	1	0	G6PD	153416584	1.000000	0.71417	1.000000	0.80357	0.132000	0.20833	4.639000	0.61361	1.797000	0.52628	0.430000	0.28490	AGC		0.652	G6PD-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061170.3	NM_000402		43	40	0	0	0	0	43	40				
RBP3	5949	broad.mit.edu	37	10	48383918	48383918	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CQ-7065-01A-11D-2078-08	TCGA-CQ-7065-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	64c422bb-a531-4636-8e68-bdaf212df6dc	d1cb757d-641c-488c-a845-ee4a1075a662	g.chr10:48383918delG	ENST00000224600.4	-	3	3427	c.3314delC	c.(3313-3315)ccafs	p.P1105fs		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	1105	4 X approximate tandem repeats.				lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transport (GO:0006810)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|interphotoreceptor matrix (GO:0033165)|vesicle (GO:0031982)	retinal binding (GO:0016918)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|serine-type peptidase activity (GO:0008236)			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	CAGCAGAACTGGAGGGCCTTC	0.537																																						uc001jez.2		NA																	0				large_intestine(1)|central_nervous_system(1)	2						c.(3313-3315)CCAfs		retinol-binding protein 3 precursor	Vitamin A(DB00162)						118.0	99.0	105.0					10																	48383918		2203	4300	6503	SO:0001589	frameshift_variant	5949				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity	g.chr10:48383918delG	M22453	CCDS73119.1	10q11.2	2014-05-06	2001-11-28		ENSG00000107618	ENSG00000265203			9921	protein-coding gene	gene with protein product		180290	"""retinol-binding protein 3, interstitial"""				Standard	NM_002900		Approved	D10S64, D10S65, D10S66, RP66	uc001jez.3	P10745	OTTHUMG00000188321	ENST00000224600.4:c.3314delC	10.37:g.48383918delG	ENSP00000224600:p.Pro1105fs						p.P1105fs	NM_002900	NP_002891	P10745	RET3_HUMAN			3	3428	-			1105			4 X approximate tandem repeats.|4.		Q0QD34|Q5VSR0|Q8IXN0	Frame_Shift_Del	DEL	ENST00000224600.4	37	c.3314delC	CCDS7218.1																																																																																				0.537	RBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047888.1	NM_002900		25	48	NA	NA	NA	NA	25	48	---	---	---	---
KRT5	3852	broad.mit.edu	37	12	52911705	52911706	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CQ-7065-01A-11D-2078-08	TCGA-CQ-7065-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	64c422bb-a531-4636-8e68-bdaf212df6dc	d1cb757d-641c-488c-a845-ee4a1075a662	g.chr12:52911705_52911706insT	ENST00000252242.4	-	4	1292_1293	c.902_903insA	c.(901-903)aacfs	p.N301fs		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	301	Coil 1B.|Rod.				cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|hemidesmosome assembly (GO:0031581)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)			endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		TCTTCATGAAGTTAATCTCATC	0.421																																						uc001san.2		NA																	0					0						c.(901-903)AACfs		keratin 5																																				SO:0001589	frameshift_variant	3852				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton	g.chr12:52911705_52911706insT		CCDS8830.1	12q13.13	2013-01-16	2008-08-01		ENSG00000186081	ENSG00000186081		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6442	protein-coding gene	gene with protein product		148040	"""epidermolysis bullosa simplex 2 Dowling-Meara/Kobner/Weber-Cockayne types"", ""keratin 5 (epidermolysis bullosa simplex, Dowling-Meara/Kobner/Weber-Cockayne types)"""	EBS2		1713141, 16831889	Standard	NM_000424		Approved	KRT5A	uc001san.3	P13647	OTTHUMG00000169657	ENST00000252242.4:c.903dupA	12.37:g.52911707_52911707dupT	ENSP00000252242:p.Asn301fs					KRT5_uc009zmh.2_Frame_Shift_Ins_p.N301fs	p.N301fs	NM_000424	NP_000415	P13647	K2C5_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	4	1065_1066	-			301			Rod.|Coil 1B.		Q6PI71|Q6UBJ0|Q8TA91	Frame_Shift_Ins	INS	ENST00000252242.4	37	c.902_903insA	CCDS8830.1																																																																																				0.421	KRT5-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405312.1			39	78	NA	NA	NA	NA	39	78	---	---	---	---
PABPC3	5042	broad.mit.edu	37	13	25671273	25671273	+	Frame_Shift_Del	DEL	G	G	-	rs376589131		TCGA-CQ-7065-01A-11D-2078-08	TCGA-CQ-7065-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	64c422bb-a531-4636-8e68-bdaf212df6dc	d1cb757d-641c-488c-a845-ee4a1075a662	g.chr13:25671273delG	ENST00000281589.3	+	1	974	c.937delG	c.(937-939)gcgfs	p.A313fs		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	313	RRM 4. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA metabolic process (GO:0016071)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		TCTCCGGAAAGCGTTTTCTCC	0.408																																						uc001upy.2		NA																	0				ovary(3)|skin(1)	4						c.(937-939)GCGfs		poly(A) binding protein, cytoplasmic 3							213.0	213.0	213.0					13																	25671273		2203	4300	6503	SO:0001589	frameshift_variant	5042				mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding	g.chr13:25671273delG	AF132026	CCDS9311.1	13q12-q13	2013-02-12	2001-11-28		ENSG00000151846	ENSG00000151846		"""RNA binding motif (RRM) containing"""	8556	protein-coding gene	gene with protein product	"""testis PABP"""	604680	"""poly(A)-binding protein, cytoplasmic 3"""	PABPL3		8432538, 10543404	Standard	NM_030979		Approved	PABP3, tPABP	uc001upy.3	Q9H361	OTTHUMG00000016601	ENST00000281589.3:c.937delG	13.37:g.25671273delG	ENSP00000281589:p.Ala313fs						p.A313fs	NM_030979	NP_112241	Q9H361	PABP3_HUMAN		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)	1	998	+		Lung SC(185;0.0225)|Breast(139;0.0602)	313			RRM 4.		Q8NHV0|Q9H086	Frame_Shift_Del	DEL	ENST00000281589.3	37	c.937delG	CCDS9311.1																																																																																				0.408	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044220.2	NM_030979		7	184	NA	NA	NA	NA	7	184	---	---	---	---
